Biochemistry (General Principles)

— Item 1 of 1 Question W: 21503 P' Mark <l Previous > Next rn L J Full Screen © Tutorial i Lab Values =* Notes Calculator Reverse Color CEA) Text Zoom i§! Settings A ( Choice C ) Glycogen storage diseases cause defective metabolism of glycogen in the liver and/or muscles. The presentation can include hypoglycemia, lactic acidosis, hepatomegaly, growth retardation, and/or muscle fatigue/cramping. Cardiomegaly can occur with Pompe disease, but corneal clouding is not a feature. ( Choice E) Niemann-Pick disease results from a deficiency of sphingomyelinase, which leads to the accumulation of sphingomyelin within phagocytes. This disease is characterized by hepatosplenomegaly and progressive neurologic deterioration, but eye findings include a cherry-red spot on the macula, not corneal clouding. Educational objective: Hurler syndrome is a mucopolysaccharidosis caused by a deficiency of alpha-L-iduronidase, which hydrolyzes dermatan and heparan sulfate. Accumulation of these substances results in the characteristic features of intellectual disability, coarse facial features, corneal clouding, and hepatosplenomegaly. Early death due to cardiac complications (eg, myocardial infarction) is expected. References • Early disease progression of Hurler syndrome. Block Time Remaining: 00:02:05 TUTOR https://t.me/USMLEWorldStep1 i Suspend O End Block — Item 1 of 1 Question W: 21503 P' Mark <l Previous > Next rn L J Full Screen © Tutorial i Lab Values =* Notes Calculator Reverse Color CEA) Text Zoom i§! Settings A ( Choice C ) Glycogen storage diseases cause defective metabolism of glycogen in the liver and/or muscles. The presentation can include hypoglycemia, lactic acidosis, hepatomegaly, growth retardation, and/or muscle fatigue/cramping. Cardiomegaly can occur with Pompe disease, but corneal clouding is not a feature. ( Choice E) Niemann-Pick disease results from a deficiency of sphingomyelinase, which leads to the accumulation of sphingomyelin within phagocytes. This disease is characterized by hepatosplenomegaly and progressive neurologic deterioration, but eye findings include a cherry-red spot on the macula, not corneal clouding. Educational objective: Hurler syndrome is a mucopolysaccharidosis caused by a deficiency of alpha-L-iduronidase, which hydrolyzes dermatan and heparan sulfate. Accumulation of these substances results in the characteristic features of intellectual disability, coarse facial features, corneal clouding, and hepatosplenomegaly. Early death due to cardiac complications (eg, myocardial infarction) is expected. References • Early disease progression of Hurler syndrome. Block Time Remaining: 00:02:05 TUTOR https://t.me/USMLEWorldStep1 i Suspend O End Block — Item 1 of 1 Question W: 21503 P' Mark <l > Previous Next r n L J Full Screen © Tutorial i LabValues =* Notes Calculator ReverseColor CEA ) TextZoom i§! Settings A ( Choice C ) Glycogenstorage diseases ofglycogen intheliver causedefective metabolism and/or hypoglycemia ,growthretardation , . The presentation ,lactic muscles acidosis can include ,hepatomegaly /cramping canoccurwithPompe disease and/ormusclefatigue isnot ,butcorneal clouding . Cardiomegaly a feature . ( Choice E) Niemann-Pickdiseaseresults ,whichleadstothe froma deficiency ofsphingomyelinase accumulation ofsphingomyelin phagocytes by hepatosplenomegaly within . Thisdiseaseischaracterized neurologic a cherry and progressive deterioration include ,buteye findings -redspoton themacula,not clouding corneal . Educational objective : ,which syndromeisa mucopolysaccharidosis Hurler ofalpha causedby a deficiency -L-iduronidase hydrolyzes results ofthesesubstances dermatanand heparansulfate inthecharacteristic . Accumulation ofintellectual features ,coarsefacial disability clouding ,corneal ,and hepatosplenomegaly . Early features (eg,myocardial )isexpected complications deathdue tocardiac infarction . References ofHurler syndrome. • Earlydiseaseprogression Block Time Remaining : 00:02: 05 TUTOR https ://t.me /USMLEWorldStep1 i O Suspend End Block — Item 1 of 1 Question W: 21503 P' Mark <l Previous > Next rn L J Full Screen © Tutorial i Lab Values =* Notes Calculator Reverse Color CEA) Text Zoom i§! Settings A ( Choice C ) Glycogenstoragediseasescause defectivemetabolismof glycogenin the liverand/or , growthretardation, , lacticacidosis, hepatomegaly muscles. The presentationcan includehypoglycemia and/or musclefatigue/cramping. Cardiomegalycan occurwith Pompe disease, but cornealcloudingis not a feature. ( Choice E) Niemann-Pick disease resultsfrom a deficiencyof sphingomyelinase , whichleads to the accumulationof sphingomyelinwithinphagocytes. This disease is characterizedby hepatosplenomegaly and progressiveneurologicdeterioration , but eye findingsincludea cherry-red spot on the macula, not cornealclouding. Educational objective: Hurler syndromeis a mucopolysaccharidosis caused by a deficiencyof alpha-L-iduronidase, which hydrolyzesdermatanand heparan sulfate. Accumulationof these substancesresultsin the characteristic , coarse facialfeatures, cornealclouding , and hepatosplenomegaly . Early featuresof intellectualdisability death due to cardiaccomplications(eg, myocardialinfarction) is expected. References • Early diseaseprogressionof Hurler syndrome. Block Time Remaining: 00:02:05 TUTOR https://t.me/USMLEWorldStep1 i Suspend O EndBlock — Item 1 of 1 Question W: 21503 P' Mark <l Previous > Next rn L J Full Screen © Tutorial i Lab Values =* Notes Calculator Reverse Color CEA) Text Zoom i§! Settings A ( Choice C ) Glycogenstoragediseasescause defectivemetabolismof glycogenin the liverand/or , growthretardation, , lacticacidosis, hepatomegaly muscles. The presentationcan includehypoglycemia and/or musclefatigue/cramping. Cardiomegalycan occurwith Pompe disease, but cornealcloudingis not a feature. ( Choice E) Niemann-Pick disease resultsfrom a deficiencyof sphingomyelinase , whichleads to the accumulationof sphingomyelinwithinphagocytes. This disease is characterizedby hepatosplenomegaly and progressiveneurologicdeterioration , but eye findingsincludea cherry-red spot on the macula, not cornealclouding. Educational objective: Hurler syndromeis a mucopolysaccharidosis caused by a deficiencyof alpha-L-iduronidase, which hydrolyzesdermatanand heparan sulfate. Accumulationof these substancesresultsin the characteristic , coarse facialfeatures, cornealclouding , and hepatosplenomegaly . Early featuresof intellectualdisability death due to cardiaccomplications(eg, myocardialinfarction) is expected. References • Early diseaseprogressionof Hurler syndrome. Block Time Remaining: 00:02:05 TUTOR https://t.me/USMLEWorldStep1 i Suspend O EndBlock — Item 1 of 1 Question W: 21503 P' Mark <l Previous > Next rn L J Full Screen © Tutorial i Lab Values =* Notes Calculator Reverse Color CEA) Text Zoom i§! Settings A ( Choice C ) Glycogenstoragediseasescause defectivemetabolismof glycogenin the liverand/or , growthretardation, , lacticacidosis, hepatomegaly muscles. The presentationcan includehypoglycemia and/or musclefatigue/cramping. Cardiomegalycan occurwith Pompe disease, but cornealcloudingis not a feature. ( Choice E) Niemann-Pick disease resultsfrom a deficiencyof sphingomyelinase , whichleads to the accumulationof sphingomyelinwithinphagocytes. This disease is characterizedby hepatosplenomegaly and progressiveneurologicdeterioration , but eye findingsincludea cherry-red spot on the macula, not cornealclouding. Educational objective: Hurler syndromeis a mucopolysaccharidosis caused by a deficiencyof alpha-L-iduronidase, which hydrolyzesdermatanand heparan sulfate. Accumulationof these substancesresultsin the characteristic , coarse facialfeatures, cornealclouding , and hepatosplenomegaly . Early featuresof intellectualdisability death due to cardiaccomplications(eg, myocardialinfarction) is expected. References • Early diseaseprogressionof Hurler syndrome. Block Time Remaining: 00:02:05 TUTOR https://t.me/USMLEWorldStep1 i Suspend O EndBlock — Item1 of1 QuestionW :21503 P'Mark <l Previous > Next r n L J Full Screen © Tutorial i Lab Values =* Notes Calculator Reverse Color CEA ) Text Zoom §! i Settings A (ChoiceC ) Glycogen storage diseases cause defective metabolism of glycogen in the liver and/or muscles. The presentation can include hypoglycemia, lactic acidosis, hepatomegaly, growth retardation, and/or muscle fatigue/cramping. Cardiomegaly can occur with Pompe disease, but corneal clouding is not a feature. (Choice E ) Niemann-Pick disease results from a deficiency of sphingomyelinase, which leads to the accumulation of sphingomyelin within phagocytes. This disease is characterized by hepatosplenomegaly and progressive neurologic deterioration, but eye findings include a cherry-red spot on the macula, not corneal clouding. Educational objective : Hurler syndrome is a mucopolysaccharidosis caused by a deficiency of alpha-L-iduronidase, which hydrolyzes dermatan and heparan sulfate. Accumulation of these substances results in the characteristic features of intellectual disability, coarse facial features, corneal clouding, and hepatosplenomegaly. Early death due to cardiac complications (eg, myocardial infarction) is expected. References • Early disease progression of Hurler syndrome. Block Time Remaining:00:02:05 TUTOR https://t.me/USMLEWorldStep1 i Suspend O End Block — Item 1 of 1 Question W: 21503 P' Mark <l Previous > Next rn L J Full Screen © Tutorial i Lab Values =* Notes Calculator Reverse Color CEA) Text Zoom i§! Settings A ( Choice C ) Glycogen storage diseases cause defective metabolism of glycogen in the liver and/or muscles. The presentation can include hypoglycemia, lactic acidosis, hepatomegaly, growth retardation, and/or muscle fatigue/cramping. Cardiomegaly can occur with Pompe disease, but corneal clouding is not a feature. ( Choice E) Niemann-Pick disease results from a deficiency of sphingomyelinase, which leads to the accumulation of sphingomyelin within phagocytes. This disease is characterized by hepatosplenomegaly and progressive neurologic deterioration, but eye findings include a cherry-red spot on the macula, not corneal clouding. Educational objective: Hurler syndrome is a mucopolysaccharidosis caused by a deficiency of alpha-L-iduronidase, which hydrolyzes dermatan and heparan sulfate. Accumulation of these substances results in the characteristic features of intellectual disability, coarse facial features, corneal clouding, and hepatosplenomegaly. Early death due to cardiac complications (eg, myocardial infarction) is expected. References • Early disease progression of Hurler syndrome. Block Time Remaining: 00:02:05 TUTOR https://t.me/USMLEWorldStep1 i Suspend O End Block — Item 1 of 1 Question W: 21503 P' Mark <l Previous > Next r n L J Full Screen © Tutorial i Lab Values =* Notes Calculator Reverse Color CEA ) Text Zoom i§! Settings A ( Choice C ) Glycogenstoragediseasescause defectivemetabolismof glycogenin the liverand/or , growthretardation, , lacticacidosis, hepatomegaly muscles. The presentationcan includehypoglycemia and/or musclefatigue/cramping. Cardiomegalycan occurwith Pompe disease, but cornealcloudingis not a feature. ( Choice E) Niemann-Pick disease resultsfrom a deficiencyof sphingomyelinase , whichleads to the accumulationof sphingomyelinwithinphagocytes. This disease is characterizedby hepatosplenomegaly and progressiveneurologicdeterioration , but eye findingsincludea cherry-red spot on the macula, not cornealclouding. Educational objective : Hurler syndromeis a mucopolysaccharidosis caused by a deficiencyof alpha-L-iduronidase, which hydrolyzesdermatanand heparan sulfate. Accumulationof these substancesresultsin the characteristic , coarse facialfeatures, cornealclouding , and hepatosplenomegaly . Early featuresof intellectualdisability death due to cardiaccomplications(eg, myocardialinfarction) is expected. References • Early diseaseprogressionof Hurler syndrome. Block Time Remaining : 00:02: 05 TUTOR https://t.me/USMLEWorldStep1 i Suspend O EndBlock — Item 1 of 1 Question W: 21503 P' Mark <l Previous > Next rn L J Full Screen © Tutorial i Lab Values =* Notes Calculator Reverse Color CEA) Text Zoom i§! Settings A ( Choice C ) Glycogen storage diseases cause defective metabolism of glycogen in the liver and/or muscles. The presentation can include hypoglycemia, lactic acidosis, hepatomegaly, growth retardation, and/or muscle fatigue/cramping. Cardiomegaly can occur with Pompe disease, but corneal clouding is not a feature. ( Choice E) Niemann-Pick disease results from a deficiency of sphingomyelinase, which leads to the accumulation of sphingomyelin within phagocytes. This disease is characterized by hepatosplenomegaly and progressive neurologic deterioration, but eye findings include a cherry-red spot on the macula, not corneal clouding. Educational objective: Hurler syndrome is a mucopolysaccharidosis caused by a deficiency of alpha-L-iduronidase, which hydrolyzes dermatan and heparan sulfate. Accumulation of these substances results in the characteristic features of intellectual disability, coarse facial features, corneal clouding, and hepatosplenomegaly. Early death due to cardiac complications (eg, myocardial infarction) is expected. References • Early disease progression of Hurler syndrome. Block Time Remaining: 00:02:05 TUTOR https://t.me/USMLEWorldStep1 i Suspend O End Block — Item1 of1 QuestionW :21503 P'Mark <l Previous > Next r n L J Full Screen © Tutorial i Lab Values =* Notes Calculator Reverse Color CEA ) Text Zoom §! i Settings A (ChoiceC ) Glycogenstoragediseasescause defectivemetabolismof glycogenin the liverand/or , growthretardation, , lacticacidosis, hepatomegaly muscles. The presentationcan includehypoglycemia and/or musclefatigue/cramping. Cardiomegalycan occurwith Pompe disease, but cornealcloudingis not a feature. (Choice E ) Niemann-Pick disease resultsfrom a deficiencyof sphingomyelinase , whichleads to the accumulationof sphingomyelinwithinphagocytes. This disease is characterizedby hepatosplenomegaly and progressiveneurologicdeterioration , but eye findingsincludea cherry-red spot on the macula, not cornealclouding. Educational objective : Hurler syndromeis a mucopolysaccharidosis caused by a deficiencyof alpha-L-iduronidase, which hydrolyzesdermatanand heparan sulfate. Accumulationof these substancesresultsin the characteristic , coarse facialfeatures, cornealclouding , and hepatosplenomegaly . Early featuresof intellectualdisability death due to cardiaccomplications(eg, myocardialinfarction) is expected. References • Early diseaseprogressionof Hurler syndrome. Block Time Remaining:00:02:05 TUTOR https://t.me/USMLEWorldStep1 i Suspend O EndBlock — Item1 of1 QuestionW :21503 P'Mark <l Previous > Next r n L J Full Screen © Tutorial i Lab Values =* Notes Calculator Reverse Color CEA ) Text Zoom §! i Settings A (ChoiceC ) Glycogen storage diseases cause defective metabolism of glycogen in the liver and/or muscles. The presentation can include hypoglycemia, lactic acidosis, hepatomegaly, growth retardation, and/or muscle fatigue/cramping. Cardiomegaly can occur with Pompe disease, but corneal clouding is not a feature. (Choice E ) Niemann-Pick disease results from a deficiency of sphingomyelinase, which leads to the accumulation of sphingomyelin within phagocytes. This disease is characterized by hepatosplenomegaly and progressive neurologic deterioration, but eye findings include a cherry-red spot on the macula, not corneal clouding. Educational objective : Hurler syndrome is a mucopolysaccharidosis caused by a deficiency of alpha-L-iduronidase, which hydrolyzes dermatan and heparan sulfate. Accumulation of these substances results in the characteristic features of intellectual disability, coarse facial features, corneal clouding, and hepatosplenomegaly. Early death due to cardiac complications (eg, myocardial infarction) is expected. References • Early disease progression of Hurler syndrome. Block Time Remaining:00:02:05 TUTOR https://t.me/USMLEWorldStep1 i Suspend O End Block — Item1 of1 QuestionW :21503 P'Mark <l Previous > Next r n L J Full Screen © Tutorial i Lab Values =* Notes Calculator Reverse Color CEA ) Text Zoom §! i Settings A (ChoiceC ) Glycogen storage diseases cause defective metabolism of glycogen in the liver and/or muscles. The presentation can include hypoglycemia, lactic acidosis, hepatomegaly, growth retardation, and/or muscle fatigue/cramping. Cardiomegaly can occur with Pompe disease, but corneal clouding is not a feature. (Choice E ) Niemann-Pick disease results from a deficiency of sphingomyelinase, which leads to the accumulation of sphingomyelin within phagocytes. This disease is characterized by hepatosplenomegaly and progressive neurologic deterioration, but eye findings include a cherry-red spot on the macula, not corneal clouding. Educational objective : Hurler syndrome is a mucopolysaccharidosis caused by a deficiency of alpha-L-iduronidase, which hydrolyzes dermatan and heparan sulfate. Accumulation of these substances results in the characteristic features of intellectual disability, coarse facial features, corneal clouding, and hepatosplenomegaly. Early death due to cardiac complications (eg, myocardial infarction) is expected. References • Early disease progression of Hurler syndrome. Block Time Remaining:00:02:05 TUTOR https://t.me/USMLEWorldStep1 i Suspend O End Block — Item 1 of 1 Question W: 21503 P' Mark <l Previous > Next rn L J Full Screen © Tutorial i Lab Values =* Notes Calculator Reverse Color CEA) Text Zoom i§! Settings A ( Choice C ) Glycogen storage diseases cause defective metabolism of glycogen in the liver and/or muscles. The presentation can include hypoglycemia, lactic acidosis, hepatomegaly, growth retardation, and/or muscle fatigue/cramping. Cardiomegaly can occur with Pompe disease, but corneal clouding is not a feature. ( Choice E) Niemann-Pick disease results from a deficiency of sphingomyelinase, which leads to the accumulation of sphingomyelin within phagocytes. This disease is characterized by hepatosplenomegaly and progressive neurologic deterioration, but eye findings include a cherry-red spot on the macula, not corneal clouding. Educational objective: Hurler syndrome is a mucopolysaccharidosis caused by a deficiency of alpha-L-iduronidase, which hydrolyzes dermatan and heparan sulfate. Accumulation of these substances results in the characteristic features of intellectual disability, coarse facial features, corneal clouding, and hepatosplenomegaly. Early death due to cardiac complications (eg, myocardial infarction) is expected. References • Early disease progression of Hurler syndrome. Block Time Remaining: 00:02:05 TUTOR https://t.me/USMLEWorldStep1 i Suspend O End Block — Item 1 of 1 Question W: 21503 P' Mark <l Previous > Next rn L J Full Screen © Tutorial i Lab Values =* Notes Calculator Reverse Color CEA) Text Zoom i§! Settings A ( Choice C ) Glycogen storage diseases cause defective metabolism of glycogen in the liver and/or muscles. The presentation can include hypoglycemia, lactic acidosis, hepatomegaly, growth retardation, and/or muscle fatigue/cramping. Cardiomegaly can occur with Pompe disease, but corneal clouding is not a feature. ( Choice E) Niemann-Pick disease results from a deficiency of sphingomyelinase, which leads to the accumulation of sphingomyelin within phagocytes. This disease is characterized by hepatosplenomegaly and progressive neurologic deterioration, but eye findings include a cherry-red spot on the macula, not corneal clouding. Educational objective: Hurler syndrome is a mucopolysaccharidosis caused by a deficiency of alpha-L-iduronidase, which hydrolyzes dermatan and heparan sulfate. Accumulation of these substances results in the characteristic features of intellectual disability, coarse facial features, corneal clouding, and hepatosplenomegaly. Early death due to cardiac complications (eg, myocardial infarction) is expected. References • Early disease progression of Hurler syndrome. Block Time Remaining: 00:02:05 TUTOR https://t.me/USMLEWorldStep1 i Suspend O End Block — Item1 of1 QuestionW :21503 P'Mark <l Previous > Next r n L J Full Screen © Tutorial i Lab Values =* Notes Calculator Reverse Color CEA ) Text Zoom §! i Settings A (ChoiceC ) Glycogenstoragediseasescause defectivemetabolismof glycogenin the liverand/or , growthretardation, , lacticacidosis, hepatomegaly muscles. The presentationcan includehypoglycemia and/or musclefatigue/cramping. Cardiomegalycan occurwith Pompe disease, but cornealcloudingis not a feature. (Choice E ) Niemann-Pick disease resultsfrom a deficiencyof sphingomyelinase , whichleads to the accumulationof sphingomyelinwithinphagocytes. This disease is characterizedby hepatosplenomegaly and progressiveneurologicdeterioration , but eye findingsincludea cherry-red spot on the macula, not cornealclouding. Educational objective : Hurler syndromeis a mucopolysaccharidosis caused by a deficiencyof alpha-L-iduronidase, which hydrolyzesdermatanand heparan sulfate. Accumulationof these substancesresultsin the characteristic , coarse facialfeatures, cornealclouding , and hepatosplenomegaly . Early featuresof intellectualdisability death due to cardiaccomplications(eg, myocardialinfarction) is expected. References • Early diseaseprogressionof Hurler syndrome. Block Time Remaining:00:02:05 TUTOR https://t.me/USMLEWorldStep1 i Suspend O EndBlock — Item1 of1 QuestionW :21503 P'Mark <l Previous > Next r n L J Full Screen © Tutorial i Lab Values =* Notes Calculator Reverse Color CEA ) Text Zoom §! i Settings A (ChoiceC ) Glycogen storage diseases cause defective metabolism of glycogen in the liver and/or muscles. The presentation can include hypoglycemia, lactic acidosis, hepatomegaly, growth retardation, and/or muscle fatigue/cramping. Cardiomegaly can occur with Pompe disease, but corneal clouding is not a feature. (Choice E ) Niemann-Pick disease results from a deficiency of sphingomyelinase, which leads to the accumulation of sphingomyelin within phagocytes. This disease is characterized by hepatosplenomegaly and progressive neurologic deterioration, but eye findings include a cherry-red spot on the macula, not corneal clouding. Educational objective : Hurler syndrome is a mucopolysaccharidosis caused by a deficiency of alpha-L-iduronidase, which hydrolyzes dermatan and heparan sulfate. Accumulation of these substances results in the characteristic features of intellectual disability, coarse facial features, corneal clouding, and hepatosplenomegaly. Early death due to cardiac complications (eg, myocardial infarction) is expected. References • Early disease progression of Hurler syndrome. Block Time Remaining:00:02:05 TUTOR https://t.me/USMLEWorldStep1 i Suspend O End Block — Item1 of1 QuestionW :21503 P'Mark <l Previous > Next r n L J Full Screen © Tutorial i Lab Values =* Notes Calculator Reverse Color CEA ) Text Zoom §! i Settings A (ChoiceC ) Glycogen storage diseases cause defective metabolism of glycogen in the liver and/or muscles. The presentation can include hypoglycemia, lactic acidosis, hepatomegaly, growth retardation, and/or muscle fatigue/cramping. Cardiomegaly can occur with Pompe disease, but corneal clouding is not a feature. (Choice E ) Niemann-Pick disease results from a deficiency of sphingomyelinase, which leads to the accumulation of sphingomyelin within phagocytes. This disease is characterized by hepatosplenomegaly and progressive neurologic deterioration, but eye findings include a cherry-red spot on the macula, not corneal clouding. Educational objective : Hurler syndrome is a mucopolysaccharidosis caused by a deficiency of alpha-L-iduronidase, which hydrolyzes dermatan and heparan sulfate. Accumulation of these substances results in the characteristic features of intellectual disability, coarse facial features, corneal clouding, and hepatosplenomegaly. Early death due to cardiac complications (eg, myocardial infarction) is expected. References • Early disease progression of Hurler syndrome. Block Time Remaining:00:02:05 TUTOR https://t.me/USMLEWorldStep1 i Suspend O End Block — Item 1 of 1 Question W: 21503 P' Mark <l Previous > Next rn L J Full Screen © Tutorial i Lab Values =* Notes Calculator Reverse Color CEA ) Text Zoom i§! Settings A ( Choice C ) Glycogen storage diseases cause defective metabolism of glycogen in the liver and /or muscles . The presentation can include hypoglycemia , lactic acidosis , hepatomegaly , growth retardation, and /or muscle fatigue /cramping. Cardiomegaly can occur with Pompe disease , but corneal clouding is not a feature. ( Choice E) Niemann -Pick disease results from a deficiency of sphingomyelinase , which leads to the accumulation of sphingomyelin within phagocytes . This disease is characterized by hepatosplenomegaly and progressive neurologic deterioration, but eye findings include a cherry-red spot on the macula , not corneal clouding . Educational objective : Hurler syndrome is a mucopolysaccharidosis caused by a deficiency of alpha -L-iduronidase , which hydrolyzes dermatan and heparan sulfate . Accumulation of these substances results in the characteristic features of intellectual disability, coarse facial features , corneal clouding, and hepatosplenomegaly . Early death due to cardiac complications (eg , myocardial infarction) is expected . References • Early disease progression of Hurler syndrome . Block Time Remaining : 00:02: 05 TUTOR https://t.me /USMLEWorldStep1 i Suspend O End Block — Item1 of1 QuestionW :21503 P'Mark <l Previous > Next r n L J Full Screen © Tutorial i Lab Values =* Notes Calculator Reverse Color CEA ) Text Zoom §! i Settings A (ChoiceC ) Glycogen storage diseases cause defective metabolism of glycogen in the liver and/or muscles. The presentation can include hypoglycemia, lactic acidosis, hepatomegaly, growth retardation, and/or muscle fatigue/cramping. Cardiomegaly can occur with Pompe disease, but corneal clouding is not a feature. (Choice E ) Niemann-Pick disease results from a deficiency of sphingomyelinase, which leads to the accumulation of sphingomyelin within phagocytes. This disease is characterized by hepatosplenomegaly and progressive neurologic deterioration, but eye findings include a cherry-red spot on the macula, not corneal clouding. Educational objective : Hurler syndrome is a mucopolysaccharidosis caused by a deficiency of alpha-L-iduronidase, which hydrolyzes dermatan and heparan sulfate. Accumulation of these substances results in the characteristic features of intellectual disability, coarse facial features, corneal clouding, and hepatosplenomegaly. Early death due to cardiac complications (eg, myocardial infarction) is expected. References • Early disease progression of Hurler syndrome. Block Time Remaining:00:02:05 TUTOR https://t.me/USMLEWorldStep1 i Suspend O End Block — Item1 of1 QuestionW :21503 P'Mark <l Previous > Next r n L J Full Screen © Tutorial i Lab Values =* Notes Calculator Reverse Color CEA ) Text Zoom §! i Settings A (ChoiceC ) Glycogenstoragediseasescause defectivemetabolismof glycogenin the liverand/or , growthretardation, , lacticacidosis, hepatomegaly muscles. The presentationcan includehypoglycemia and/or musclefatigue/cramping. Cardiomegalycan occurwith Pompe disease, but cornealcloudingis not a feature. (Choice E ) Niemann-Pick disease resultsfrom a deficiencyof sphingomyelinase , whichleads to the accumulationof sphingomyelinwithinphagocytes. This disease is characterizedby hepatosplenomegaly and progressiveneurologicdeterioration , but eye findingsincludea cherry-red spot on the macula, not cornealclouding. Educational objective : Hurler syndromeis a mucopolysaccharidosis caused by a deficiencyof alpha-L-iduronidase, which hydrolyzesdermatanand heparan sulfate. Accumulationof these substancesresultsin the characteristic , coarse facialfeatures, cornealclouding , and hepatosplenomegaly . Early featuresof intellectualdisability death due to cardiaccomplications(eg, myocardialinfarction) is expected. References • Early diseaseprogressionof Hurler syndrome. Block Time Remaining:00:02:05 TUTOR https://t.me/USMLEWorldStep1 i Suspend O EndBlock — Item1 of1 QuestionW :21503 P'Mark <l Previous > Next r n L J Full Screen © Tutorial i Lab Values =* Notes Calculator Reverse Color CEA ) Text Zoom §! i Settings A (ChoiceC ) Glycogen storage diseases cause defective metabolism of glycogen in the liver and/or muscles. The presentation can include hypoglycemia, lactic acidosis, hepatomegaly, growth retardation, and/or muscle fatigue/cramping. Cardiomegaly can occur with Pompe disease, but corneal clouding is not a feature. (Choice E ) Niemann-Pick disease results from a deficiency of sphingomyelinase, which leads to the accumulation of sphingomyelin within phagocytes. This disease is characterized by hepatosplenomegaly and progressive neurologic deterioration, but eye findings include a cherry-red spot on the macula, not corneal clouding. Educational objective : Hurler syndrome is a mucopolysaccharidosis caused by a deficiency of alpha-L-iduronidase, which hydrolyzes dermatan and heparan sulfate. Accumulation of these substances results in the characteristic features of intellectual disability, coarse facial features, corneal clouding, and hepatosplenomegaly. Early death due to cardiac complications (eg, myocardial infarction) is expected. References • Early disease progression of Hurler syndrome. Block Time Remaining:00:02:05 TUTOR https://t.me/USMLEWorldStep1 i Suspend O End Block — Item1 of1 QuestionW :21503 P'Mark <l Previous > Next r n L J Full Screen © Tutorial i Lab Values =* Notes Calculator Reverse Color CEA ) Text Zoom §! i Settings A (ChoiceC ) Glycogen storage diseases cause defective metabolism of glycogen in the liver and/or muscles. The presentation can include hypoglycemia, lactic acidosis, hepatomegaly, growth retardation, and/or muscle fatigue/cramping. Cardiomegaly can occur with Pompe disease, but corneal clouding is not a feature. (Choice E ) Niemann-Pick disease results from a deficiency of sphingomyelinase, which leads to the accumulation of sphingomyelin within phagocytes. This disease is characterized by hepatosplenomegaly and progressive neurologic deterioration, but eye findings include a cherry-red spot on the macula, not corneal clouding. Educational objective : Hurler syndrome is a mucopolysaccharidosis caused by a deficiency of alpha-L-iduronidase, which hydrolyzes dermatan and heparan sulfate. Accumulation of these substances results in the characteristic features of intellectual disability, coarse facial features, corneal clouding, and hepatosplenomegaly. Early death due to cardiac complications (eg, myocardial infarction) is expected. References • Early disease progression of Hurler syndrome. Block Time Remaining:00:02:05 TUTOR https://t.me/USMLEWorldStep1 i Suspend O End Block — Item1 of1 QuestionW :21503 P'Mark <l Previous > Next r n L J Full Screen © Tutorial i Lab Values =* Notes Calculator Reverse Color CEA ) Text Zoom §! i Settings A (ChoiceC ) Glycogen storage diseases cause defective metabolism of glycogen in the liver and/or muscles. The presentation can include hypoglycemia, lactic acidosis, hepatomegaly, growth retardation, and/or muscle fatigue/cramping. Cardiomegaly can occur with Pompe disease, but corneal clouding is not a feature. (Choice E ) Niemann-Pick disease results from a deficiency of sphingomyelinase, which leads to the accumulation of sphingomyelin within phagocytes. This disease is characterized by hepatosplenomegaly and progressive neurologic deterioration, but eye findings include a cherry-red spot on the macula, not corneal clouding. Educational objective : Hurler syndrome is a mucopolysaccharidosis caused by a deficiency of alpha-L-iduronidase, which hydrolyzes dermatan and heparan sulfate. Accumulation of these substances results in the characteristic features of intellectual disability, coarse facial features, corneal clouding, and hepatosplenomegaly. Early death due to cardiac complications (eg, myocardial infarction) is expected. References • Early disease progression of Hurler syndrome. Block Time Remaining:00:02:05 TUTOR https://t.me/USMLEWorldStep1 i Suspend O End Block — Item 1 of 1 Question W: 21503 P' Mark <l Previous > Next r n L J Full Screen © Tutorial i Lab Values =* Notes Calculator Reverse Color CEA ) Text Zoom i§! Settings A ( Choice C ) Glycogenstoragediseasescause defectivemetabolismof glycogenin the liverand/or , growthretardation, , lacticacidosis, hepatomegaly muscles. The presentationcan includehypoglycemia and/or musclefatigue/cramping. Cardiomegalycan occurwith Pompe disease, but cornealcloudingis not a feature. ( Choice E) Niemann-Pick disease resultsfrom a deficiencyof sphingomyelinase , whichleads to the accumulationof sphingomyelinwithinphagocytes. This disease is characterizedby hepatosplenomegaly and progressiveneurologicdeterioration , but eye findingsincludea cherry-red spot on the macula, not cornealclouding. Educational objective : Hurler syndromeis a mucopolysaccharidosis caused by a deficiencyof alpha-L-iduronidase, which hydrolyzesdermatanand heparan sulfate. Accumulationof these substancesresultsin the characteristic , coarse facialfeatures, cornealclouding , and hepatosplenomegaly . Early featuresof intellectualdisability death due to cardiaccomplications(eg, myocardialinfarction) is expected. References • Early diseaseprogressionof Hurler syndrome. Block Time Remaining : 00:02: 05 TUTOR https://t.me/USMLEWorldStep1 i Suspend O EndBlock — Item1 of1 QuestionW :21503 P'Mark <l Previous > Next r n L J Full Screen © Tutorial i Lab Values =* Notes Calculator Reverse Color CEA ) Text Zoom §! i Settings A (ChoiceC ) Glycogen storage diseases cause defective metabolism of glycogen in the liver and/or muscles. The presentation can include hypoglycemia, lactic acidosis, hepatomegaly, growth retardation, and/or muscle fatigue/cramping. Cardiomegaly can occur with Pompe disease, but corneal clouding is not a feature. (Choice E ) Niemann-Pick disease results from a deficiency of sphingomyelinase, which leads to the accumulation of sphingomyelin within phagocytes. This disease is characterized by hepatosplenomegaly and progressive neurologic deterioration, but eye findings include a cherry-red spot on the macula, not corneal clouding. Educational objective : Hurler syndrome is a mucopolysaccharidosis caused by a deficiency of alpha-L-iduronidase, which hydrolyzes dermatan and heparan sulfate. Accumulation of these substances results in the characteristic features of intellectual disability, coarse facial features, corneal clouding, and hepatosplenomegaly. Early death due to cardiac complications (eg, myocardial infarction) is expected. References • Early disease progression of Hurler syndrome. Block Time Remaining:00:02:05 TUTOR https://t.me/USMLEWorldStep1 i Suspend O End Block — Item 1 of 1 Question W: 21503 P' Mark <l Previous > Next rn L J Full Screen © Tutorial i Lab Values =* Notes Calculator Reverse Color CEA) Text Zoom i§! Settings A ( Choice C ) Glycogen storage diseases cause defective metabolism of glycogen in the liver and/or muscles. The presentation can include hypoglycemia, lactic acidosis, hepatomegaly, growth retardation, and/or muscle fatigue/cramping. Cardiomegaly can occur with Pompe disease, but corneal clouding is not a feature. ( Choice E) Niemann-Pick disease results from a deficiency of sphingomyelinase, which leads to the accumulation of sphingomyelin within phagocytes. This disease is characterized by hepatosplenomegaly and progressive neurologic deterioration, but eye findings include a cherry-red spot on the macula, not corneal clouding. Educational objective: Hurler syndrome is a mucopolysaccharidosis caused by a deficiency of alpha-L-iduronidase, which hydrolyzes dermatan and heparan sulfate. Accumulation of these substances results in the characteristic features of intellectual disability, coarse facial features, corneal clouding, and hepatosplenomegaly. Early death due to cardiac complications (eg, myocardial infarction) is expected. References • Early disease progression of Hurler syndrome. Block Time Remaining: 00:02:05 TUTOR https://t.me/USMLEWorldStep1 i Suspend O End Block — Item1 of1 QuestionW :21503 P'Mark <l Previous > Next r n L J Full Screen © Tutorial i Lab Values =* Notes Calculator Reverse Color CEA ) Text Zoom §! i Settings A (ChoiceC ) Glycogenstoragediseasescause defectivemetabolismof glycogenin the liverand/or , growthretardation, , lacticacidosis, hepatomegaly muscles. The presentationcan includehypoglycemia and/or musclefatigue/cramping. Cardiomegalycan occurwith Pompe disease, but cornealcloudingis not a feature. (Choice E ) Niemann-Pick disease resultsfrom a deficiencyof sphingomyelinase , whichleads to the accumulationof sphingomyelinwithinphagocytes. This disease is characterizedby hepatosplenomegaly and progressiveneurologicdeterioration , but eye findingsincludea cherry-red spot on the macula, not cornealclouding. Educational objective : Hurler syndromeis a mucopolysaccharidosis caused by a deficiencyof alpha-L-iduronidase, which hydrolyzesdermatanand heparan sulfate. Accumulationof these substancesresultsin the characteristic , coarse facialfeatures, cornealclouding , and hepatosplenomegaly . Early featuresof intellectualdisability death due to cardiaccomplications(eg, myocardialinfarction) is expected. References • Early diseaseprogressionof Hurler syndrome. Block Time Remaining:00:02:05 TUTOR https://t.me/USMLEWorldStep1 i Suspend O EndBlock — Item1 of1 QuestionW :21503 P'Mark <l Previous > Next r n L J Full Screen © Tutorial i Lab Values =* Notes Calculator Reverse Color CEA ) Text Zoom §! i Settings A (ChoiceC ) Glycogen storage diseases cause defective metabolism of glycogen in the liver and/or muscles. The presentation can include hypoglycemia, lactic acidosis, hepatomegaly, growth retardation, and/or muscle fatigue/cramping. Cardiomegaly can occur with Pompe disease, but corneal clouding is not a feature. (Choice E ) Niemann-Pick disease results from a deficiency of sphingomyelinase, which leads to the accumulation of sphingomyelin within phagocytes. This disease is characterized by hepatosplenomegaly and progressive neurologic deterioration, but eye findings include a cherry-red spot on the macula, not corneal clouding. Educational objective : Hurler syndrome is a mucopolysaccharidosis caused by a deficiency of alpha-L-iduronidase, which hydrolyzes dermatan and heparan sulfate. Accumulation of these substances results in the characteristic features of intellectual disability, coarse facial features, corneal clouding, and hepatosplenomegaly. Early death due to cardiac complications (eg, myocardial infarction) is expected. References • Early disease progression of Hurler syndrome. Block Time Remaining:00:02:05 TUTOR https://t.me/USMLEWorldStep1 i Suspend O End Block — Item 1 of 1 Question W: 21503 P' Mark <l Previous > Next rn L J Full Screen © Tutorial i Lab Values =* Notes Calculator Reverse Color CEA) Text Zoom i§! Settings A ( Choice C ) Glycogen storage diseases cause defective metabolism of glycogen in the liver and/or muscles. The presentation can include hypoglycemia, lactic acidosis, hepatomegaly, growth retardation, and/or muscle fatigue/cramping. Cardiomegaly can occur with Pompe disease, but corneal clouding is not a feature. ( Choice E) Niemann-Pick disease results from a deficiency of sphingomyelinase, which leads to the accumulation of sphingomyelin within phagocytes. This disease is characterized by hepatosplenomegaly and progressive neurologic deterioration, but eye findings include a cherry-red spot on the macula, not corneal clouding. Educational objective: Hurler syndrome is a mucopolysaccharidosis caused by a deficiency of alpha-L-iduronidase, which hydrolyzes dermatan and heparan sulfate. Accumulation of these substances results in the characteristic features of intellectual disability, coarse facial features, corneal clouding, and hepatosplenomegaly. Early death due to cardiac complications (eg, myocardial infarction) is expected. References • Early disease progression of Hurler syndrome. Block Time Remaining: 00:02:05 TUTOR https://t.me/USMLEWorldStep1 i Suspend O End Block — Item 1 of 1 Question W: 21503 P' Mark <l Previous > Next r n L J Full Screen © Tutorial i Lab Values =* Notes Calculator Reverse Color CEA) Text Zoom i§! Settings A ( Choice C ) Glycogen storage diseases cause defective metabolism of glycogen in the liver and/or muscles. The presentation can include hypoglycemia, lactic acidosis, hepatomegaly, growth retardation, and/or muscle fatigue/cramping. Cardiomegaly can occur with Pompe disease, but corneal clouding is not a feature. ( Choice E) Niemann-Pick disease results from a deficiency of sphingomyelinase, which leads to the accumulation of sphingomyelin within phagocytes. This disease is characterized by hepatosplenomegaly and progressive neurologic deterioration, but eye findings include a cherry-red spot on the macula, not corneal clouding. Educational objective: Hurler syndrome is a mucopolysaccharidosis caused by a deficiency of alpha-L-iduronidase, which hydrolyzes dermatan and heparan sulfate. Accumulation of these substances results in the characteristic features of intellectual disability, coarse facial features, corneal clouding, and hepatosplenomegaly. Early death due to cardiac complications (eg, myocardial infarction) is expected. References • Early disease progression of Hurler syndrome. Block Time Remaining: 00:02:05 TUTOR https://t.me/USMLEWorldStep1 i Suspend O End Block — Item1 of1 QuestionW :21503 P'Mark <l Previous > Next r n L J Full Screen © Tutorial i Lab Values =* Notes Calculator Reverse Color CEA ) Text Zoom §! i Settings A (ChoiceC ) Glycogen storage diseases cause defective metabolism of glycogen in the liver and/or muscles. The presentation can include hypoglycemia, lactic acidosis, hepatomegaly, growth retardation, and/or muscle fatigue/cramping. Cardiomegaly can occur with Pompe disease, but corneal clouding is not a feature. (Choice E ) Niemann-Pick disease results from a deficiency of sphingomyelinase, which leads to the accumulation of sphingomyelin within phagocytes. This disease is characterized by hepatosplenomegaly and progressive neurologic deterioration, but eye findings include a cherry-red spot on the macula, not corneal clouding. Educational objective : Hurler syndrome is a mucopolysaccharidosis caused by a deficiency of alpha-L-iduronidase, which hydrolyzes dermatan and heparan sulfate. Accumulation of these substances results in the characteristic features of intellectual disability, coarse facial features, corneal clouding, and hepatosplenomegaly. Early death due to cardiac complications (eg, myocardial infarction) is expected. References • Early disease progression of Hurler syndrome. Block Time Remaining:00:02:05 TUTOR https://t.me/USMLEWorldStep1 i Suspend O End Block — Item 1 of 1 Question W: 21503 P' Mark <l Previous > Next r n L J Full Screen © Tutorial i Lab Values =* Notes Calculator Reverse Color CEA ) Text Zoom i§! Settings A ( Choice C ) Glycogenstoragediseasescause defectivemetabolismof glycogenin the liverand/or , growthretardation, , lacticacidosis, hepatomegaly muscles. The presentationcan includehypoglycemia and/or musclefatigue/cramping. Cardiomegalycan occurwith Pompe disease, but cornealcloudingis not a feature. ( Choice E) Niemann-Pick disease resultsfrom a deficiencyof sphingomyelinase , whichleads to the accumulationof sphingomyelinwithinphagocytes. This disease is characterizedby hepatosplenomegaly and progressiveneurologicdeterioration , but eye findingsincludea cherry-red spot on the macula, not cornealclouding. Educational objective : Hurler syndromeis a mucopolysaccharidosis caused by a deficiencyof alpha-L-iduronidase, which hydrolyzesdermatanand heparan sulfate. Accumulationof these substancesresultsin the characteristic , coarse facialfeatures, cornealclouding , and hepatosplenomegaly . Early featuresof intellectualdisability death due to cardiaccomplications(eg, myocardialinfarction) is expected. References • Early diseaseprogressionof Hurler syndrome. Block Time Remaining : 00:02: 05 TUTOR https://t.me/USMLEWorldStep1 i Suspend O EndBlock — Item 1 of 1 Question W: 21503 P' Mark <l Previous > Next r n L J Full Screen © Tutorial i Lab Values =* Notes Calculator Reverse Color CEA ) Text Zoom i§! Settings A ( Choice C ) Glycogenstoragediseasescause defectivemetabolismof glycogenin the liverand/or , growthretardation, , lacticacidosis, hepatomegaly muscles. The presentationcan includehypoglycemia and/or musclefatigue/cramping. Cardiomegalycan occurwith Pompe disease, but cornealcloudingis not a feature. ( Choice E) Niemann-Pick disease resultsfrom a deficiencyof sphingomyelinase , whichleads to the accumulationof sphingomyelinwithinphagocytes. This disease is characterizedby hepatosplenomegaly and progressiveneurologicdeterioration , but eye findingsincludea cherry-red spot on the macula, not cornealclouding. Educational objective : Hurler syndromeis a mucopolysaccharidosis caused by a deficiencyof alpha-L-iduronidase, which hydrolyzesdermatanand heparan sulfate. Accumulationof these substancesresultsin the characteristic , coarse facialfeatures, cornealclouding , and hepatosplenomegaly . Early featuresof intellectualdisability death due to cardiaccomplications(eg, myocardialinfarction) is expected. References • Early diseaseprogressionof Hurler syndrome. Block Time Remaining : 00:02: 05 TUTOR https://t.me/USMLEWorldStep1 i Suspend O EndBlock — Item1 of1 QuestionW :21503 P'Mark <l Previous > Next r n L J Full Screen © Tutorial i Lab Values =* Notes Calculator Reverse Color CEA ) Text Zoom §! i Settings A (ChoiceC ) Glycogen storage diseases cause defective metabolism of glycogen in the liver and/or muscles. The presentation can include hypoglycemia, lactic acidosis, hepatomegaly, growth retardation, and/or muscle fatigue/cramping. Cardiomegaly can occur with Pompe disease, but corneal clouding is not a feature. (Choice E ) Niemann-Pick disease results from a deficiency of sphingomyelinase, which leads to the accumulation of sphingomyelin within phagocytes. This disease is characterized by hepatosplenomegaly and progressive neurologic deterioration, but eye findings include a cherry-red spot on the macula, not corneal clouding. Educational objective : Hurler syndrome is a mucopolysaccharidosis caused by a deficiency of alpha-L-iduronidase, which hydrolyzes dermatan and heparan sulfate. Accumulation of these substances results in the characteristic features of intellectual disability, coarse facial features, corneal clouding, and hepatosplenomegaly. Early death due to cardiac complications (eg, myocardial infarction) is expected. References • Early disease progression of Hurler syndrome. Block Time Remaining:00:02:05 TUTOR https://t.me/USMLEWorldStep1 i Suspend O End Block — Item1 of1 QuestionW :21503 P'Mark <l Previous > Next r n L J Full Screen © Tutorial i Lab Values =* Notes Calculator Reverse Color CEA ) Text Zoom §! i Settings A (ChoiceC ) Glycogen storage diseases cause defective metabolism of glycogen in the liver and/or muscles. The presentation can include hypoglycemia, lactic acidosis, hepatomegaly, growth retardation, and/or muscle fatigue/cramping. Cardiomegaly can occur with Pompe disease, but corneal clouding is not a feature. (Choice E ) Niemann-Pick disease results from a deficiency of sphingomyelinase, which leads to the accumulation of sphingomyelin within phagocytes. This disease is characterized by hepatosplenomegaly and progressive neurologic deterioration, but eye findings include a cherry-red spot on the macula, not corneal clouding. Educational objective : Hurler syndrome is a mucopolysaccharidosis caused by a deficiency of alpha-L-iduronidase, which hydrolyzes dermatan and heparan sulfate. Accumulation of these substances results in the characteristic features of intellectual disability, coarse facial features, corneal clouding, and hepatosplenomegaly. Early death due to cardiac complications (eg, myocardial infarction) is expected. References • Early disease progression of Hurler syndrome. Block Time Remaining:00:02:05 TUTOR https://t.me/USMLEWorldStep1 i Suspend O End Block — Item 1 of 1 Question W: 21503 P' Mark <l Previous > Next r n L J Full Screen © Tutorial i Lab Values =* Notes Calculator Reverse Color CEA) Text Zoom i§! Settings A ( Choice C ) Glycogen storage diseases cause defective metabolism of glycogen in the liver and/or muscles. The presentation can include hypoglycemia, lactic acidosis, hepatomegaly, growth retardation, and/or muscle fatigue/cramping. Cardiomegaly can occur with Pompe disease, but corneal clouding is not a feature. ( Choice E) Niemann-Pick disease results from a deficiency of sphingomyelinase, which leads to the accumulation of sphingomyelin within phagocytes. This disease is characterized by hepatosplenomegaly and progressive neurologic deterioration, but eye findings include a cherry-red spot on the macula, not corneal clouding. Educational objective: Hurler syndrome is a mucopolysaccharidosis caused by a deficiency of alpha-L-iduronidase, which hydrolyzes dermatan and heparan sulfate. Accumulation of these substances results in the characteristic features of intellectual disability, coarse facial features, corneal clouding, and hepatosplenomegaly. Early death due to cardiac complications (eg, myocardial infarction) is expected. References • Early disease progression of Hurler syndrome. Block Time Remaining: 00:02:05 TUTOR https://t.me/USMLEWorldStep1 i Suspend O End Block — Item 1 of 1 Question W: 21503 P' Mark <l Previous > Next rn L J Full Screen © Tutorial i Lab Values =* Notes Calculator Reverse Color CEA) Text Zoom i§! Settings A ( Choice C ) Glycogen storage diseases cause defective metabolism of glycogen in the liver and/or muscles. The presentation can include hypoglycemia, lactic acidosis, hepatomegaly, growth retardation, and/or muscle fatigue/cramping. Cardiomegaly can occur with Pompe disease, but corneal clouding is not a feature. ( Choice E) Niemann-Pick disease results from a deficiency of sphingomyelinase, which leads to the accumulation of sphingomyelin within phagocytes. This disease is characterized by hepatosplenomegaly and progressive neurologic deterioration, but eye findings include a cherry-red spot on the macula, not corneal clouding. Educational objective: Hurler syndrome is a mucopolysaccharidosis caused by a deficiency of alpha-L-iduronidase, which hydrolyzes dermatan and heparan sulfate. Accumulation of these substances results in the characteristic features of intellectual disability, coarse facial features, corneal clouding, and hepatosplenomegaly. Early death due to cardiac complications (eg, myocardial infarction) is expected. References • Early disease progression of Hurler syndrome. Block Time Remaining: 00:02:05 TUTOR https://t.me/USMLEWorldStep1 i Suspend O End Block — Item 1 of 1 Question W: 21503 P' Mark <l Previous > Next rn L J Full Screen © Tutorial i Lab Values =* Notes Calculator Reverse Color CEA) Text Zoom i§! Settings A ( Choice C ) Glycogen storage diseases cause defective metabolism of glycogen in the liver and/or muscles. The presentation can include hypoglycemia, lactic acidosis, hepatomegaly, growth retardation, and/or muscle fatigue/cramping. Cardiomegaly can occur with Pompe disease, but corneal clouding is not a feature. ( Choice E) Niemann-Pick disease results from a deficiency of sphingomyelinase, which leads to the accumulation of sphingomyelin within phagocytes. This disease is characterized by hepatosplenomegaly and progressive neurologic deterioration, but eye findings include a cherry-red spot on the macula, not corneal clouding. Educational objective: Hurler syndrome is a mucopolysaccharidosis caused by a deficiency of alpha-L-iduronidase, which hydrolyzes dermatan and heparan sulfate. Accumulation of these substances results in the characteristic features of intellectual disability, coarse facial features, corneal clouding, and hepatosplenomegaly. Early death due to cardiac complications (eg, myocardial infarction) is expected. References • Early disease progression of Hurler syndrome. Block Time Remaining: 00:02:05 TUTOR https://t.me/USMLEWorldStep1 i Suspend O End Block — Item1 of1 QuestionW :21503 P'Mark <l Previous > Next r n L J Full Screen © Tutorial i Lab Values =* Notes Calculator Reverse Color CEA ) Text Zoom §! i Settings A (ChoiceC ) Glycogen storage diseases cause defective metabolism of glycogen in the liver and/or muscles. The presentation can include hypoglycemia, lactic acidosis, hepatomegaly, growth retardation, and/or muscle fatigue/cramping. Cardiomegaly can occur with Pompe disease, but corneal clouding is not a feature. (Choice E ) Niemann-Pick disease results from a deficiency of sphingomyelinase, which leads to the accumulation of sphingomyelin within phagocytes. This disease is characterized by hepatosplenomegaly and progressive neurologic deterioration, but eye findings include a cherry-red spot on the macula, not corneal clouding. Educational objective : Hurler syndrome is a mucopolysaccharidosis caused by a deficiency of alpha-L-iduronidase, which hydrolyzes dermatan and heparan sulfate. Accumulation of these substances results in the characteristic features of intellectual disability, coarse facial features, corneal clouding, and hepatosplenomegaly. Early death due to cardiac complications (eg, myocardial infarction) is expected. References • Early disease progression of Hurler syndrome. Block Time Remaining:00:02:05 TUTOR https://t.me/USMLEWorldStep1 i Suspend O End Block — Item 1 of 1 Question W: 21503 P' Mark <l Previous > Next rn L J Full Screen © Tutorial i Lab Values =* Notes Calculator Reverse Color CEA) Text Zoom i§! Settings A ( Choice C ) Glycogen storage diseases cause defective metabolism of glycogen in the liver and/or muscles. The presentation can include hypoglycemia, lactic acidosis, hepatomegaly, growth retardation, and/or muscle fatigue/cramping. Cardiomegaly can occur with Pompe disease, but corneal clouding is not a feature. ( Choice E) Niemann-Pick disease results from a deficiency of sphingomyelinase, which leads to the accumulation of sphingomyelin within phagocytes. This disease is characterized by hepatosplenomegaly and progressive neurologic deterioration, but eye findings include a cherry-red spot on the macula, not corneal clouding. Educational objective: Hurler syndrome is a mucopolysaccharidosis caused by a deficiency of alpha-L-iduronidase, which hydrolyzes dermatan and heparan sulfate. Accumulation of these substances results in the characteristic features of intellectual disability, coarse facial features, corneal clouding, and hepatosplenomegaly. Early death due to cardiac complications (eg, myocardial infarction) is expected. References • Early disease progression of Hurler syndrome. Block Time Remaining: 00:02:05 TUTOR https://t.me/USMLEWorldStep1 i Suspend O End Block — Item 1 of 1 Question W: 21503 P' Mark <l Previous > Next rn L J Full Screen © Tutorial i Lab Values =* Notes Calculator Reverse Color CEA) Text Zoom i§! Settings A ( Choice C ) Glycogen storage diseases cause defective metabolism of glycogen in the liver and/or muscles. The presentation can include hypoglycemia, lactic acidosis, hepatomegaly, growth retardation, and/or muscle fatigue/cramping. Cardiomegaly can occur with Pompe disease, but corneal clouding is not a feature. ( Choice E) Niemann-Pick disease results from a deficiency of sphingomyelinase, which leads to the accumulation of sphingomyelin within phagocytes. This disease is characterized by hepatosplenomegaly and progressive neurologic deterioration, but eye findings include a cherry-red spot on the macula, not corneal clouding. Educational objective: Hurler syndrome is a mucopolysaccharidosis caused by a deficiency of alpha-L-iduronidase, which hydrolyzes dermatan and heparan sulfate. Accumulation of these substances results in the characteristic features of intellectual disability, coarse facial features, corneal clouding, and hepatosplenomegaly. Early death due to cardiac complications (eg, myocardial infarction) is expected. References • Early disease progression of Hurler syndrome. Block Time Remaining: 00:02:05 TUTOR https://t.me/USMLEWorldStep1 i Suspend O End Block — Item 1 of 1 Question W: 21503 P' Mark <l Previous > Next r n L J Full Screen © Tutorial i Lab Values =* Notes Calculator Reverse Color CEA ) Text Zoom i§! Settings A ( Choice C ) Glycogenstoragediseasescause defectivemetabolismof glycogenin the liverand/or , growthretardation, , lacticacidosis, hepatomegaly muscles. The presentationcan includehypoglycemia and/or musclefatigue/cramping. Cardiomegalycan occurwith Pompe disease, but cornealcloudingis not a feature. ( Choice E) Niemann-Pick disease resultsfrom a deficiencyof sphingomyelinase , whichleads to the accumulationof sphingomyelinwithinphagocytes. This disease is characterizedby hepatosplenomegaly and progressiveneurologicdeterioration , but eye findingsincludea cherry-red spot on the macula, not cornealclouding. Educational objective : Hurler syndromeis a mucopolysaccharidosis caused by a deficiencyof alpha-L-iduronidase, which hydrolyzesdermatanand heparan sulfate. Accumulationof these substancesresultsin the characteristic , coarse facialfeatures, cornealclouding , and hepatosplenomegaly . Early featuresof intellectualdisability death due to cardiaccomplications(eg, myocardialinfarction) is expected. References • Early diseaseprogressionof Hurler syndrome. Block Time Remaining : 00:02: 05 TUTOR https://t.me/USMLEWorldStep1 i Suspend O EndBlock — Item 1 of 1 Question W: 21503 P ' Mark <l Previous > Next r n L J Full Screen © Tutorial i Lab Values =* Notes Calculator Reverse Color CEA ) Text Zoom i§! Settings A ( Choice C ) Glycogenstoragediseasescause defectivemetabolismof glycogenin the liverand/or , growthretardation, , lacticacidosis, hepatomegaly muscles. The presentationcan includehypoglycemia and/or musclefatigue/cramping. Cardiomegalycan occurwith Pompe disease, but cornealcloudingis not a feature. ( Choice E ) Niemann-Pick disease resultsfrom a deficiencyof sphingomyelinase , whichleads to the accumulationof sphingomyelinwithinphagocytes. This disease is characterizedby hepatosplenomegaly and progressiveneurologicdeterioration , but eye findingsincludea cherry-red spot on the macula, not cornealclouding. Educational objective : Hurler syndromeis a mucopolysaccharidosis caused by a deficiencyof alpha-L-iduronidase, which hydrolyzesdermatanand heparan sulfate. Accumulationof these substancesresultsin the characteristic , coarse facialfeatures, cornealclouding , and hepatosplenomegaly . Early featuresof intellectualdisability death due to cardiaccomplications(eg, myocardialinfarction) is expected. References • Early diseaseprogressionof Hurler syndrome. Block Time Remaining : 00 :02 : 05 TUTOR https://t.me/USMLEWorldStep1 i Suspend O EndBlock — Item 1 of 1 Question W: 21503 P' Mark <l Previous > Next rn L J Full Screen © Tutorial i Lab Values =* Notes Calculator Reverse Color CEA) Text Zoom i§! Settings A ( Choice C ) Glycogen storage diseases cause defective metabolism of glycogen in the liver and/or muscles. The presentation can include hypoglycemia, lactic acidosis, hepatomegaly, growth retardation, and/or muscle fatigue/cramping. Cardiomegaly can occur with Pompe disease, but corneal clouding is not a feature. ( Choice E) Niemann-Pick disease results from a deficiency of sphingomyelinase, which leads to the accumulation of sphingomyelin within phagocytes. This disease is characterized by hepatosplenomegaly and progressive neurologic deterioration, but eye findings include a cherry-red spot on the macula, not corneal clouding. Educational objective: Hurler syndrome is a mucopolysaccharidosis caused by a deficiency of alpha-L-iduronidase, which hydrolyzes dermatan and heparan sulfate. Accumulation of these substances results in the characteristic features of intellectual disability, coarse facial features, corneal clouding, and hepatosplenomegaly. Early death due to cardiac complications (eg, myocardial infarction) is expected. References • Early disease progression of Hurler syndrome. Block Time Remaining: 00:02:05 TUTOR https://t.me/USMLEWorldStep1 i Suspend O End Block — Item1 of1 QuestionW :21503 P'Mark <l Previous > Next r n L J Full Screen © Tutorial i Lab Values =* Notes Calculator Reverse Color CEA ) Text Zoom §! i Settings A (ChoiceC ) Glycogen storage diseases cause defective metabolism of glycogen in the liver and/or muscles. The presentation can include hypoglycemia, lactic acidosis, hepatomegaly, growth retardation, and/or muscle fatigue/cramping. Cardiomegaly can occur with Pompe disease, but corneal clouding is not a feature. (Choice E ) Niemann-Pick disease results from a deficiency of sphingomyelinase, which leads to the accumulation of sphingomyelin within phagocytes. This disease is characterized by hepatosplenomegaly and progressive neurologic deterioration, but eye findings include a cherry-red spot on the macula, not corneal clouding. Educational objective : Hurler syndrome is a mucopolysaccharidosis caused by a deficiency of alpha-L-iduronidase, which hydrolyzes dermatan and heparan sulfate. Accumulation of these substances results in the characteristic features of intellectual disability, coarse facial features, corneal clouding, and hepatosplenomegaly. Early death due to cardiac complications (eg, myocardial infarction) is expected. References • Early disease progression of Hurler syndrome. Block Time Remaining:00:02:05 TUTOR https://t.me/USMLEWorldStep1 i Suspend O End Block — Item 1 of 1 Question W: 21503 P' Mark <l Previous > Next rn L J Full Screen © Tutorial i Lab Values =* Notes Calculator Reverse Color CEA) Text Zoom i§! Settings A ( Choice C ) Glycogen storage diseases cause defective metabolism of glycogen in the liver and/or muscles. The presentation can include hypoglycemia, lactic acidosis, hepatomegaly, growth retardation, and/or muscle fatigue/cramping. Cardiomegaly can occur with Pompe disease, but corneal clouding is not a feature. ( Choice E) Niemann-Pick disease results from a deficiency of sphingomyelinase, which leads to the accumulation of sphingomyelin within phagocytes. This disease is characterized by hepatosplenomegaly and progressive neurologic deterioration, but eye findings include a cherry-red spot on the macula, not corneal clouding. Educational objective: Hurler syndrome is a mucopolysaccharidosis caused by a deficiency of alpha-L-iduronidase, which hydrolyzes dermatan and heparan sulfate. Accumulation of these substances results in the characteristic features of intellectual disability, coarse facial features, corneal clouding, and hepatosplenomegaly. Early death due to cardiac complications (eg, myocardial infarction) is expected. References • Early disease progression of Hurler syndrome. Block Time Remaining: 00:02:05 TUTOR https://t.me/USMLEWorldStep1 i Suspend O End Block — Item1 of1 QuestionW :21503 P'Mark <l Previous > Next r n L J Full Screen © Tutorial i Lab Values =* Notes Calculator Reverse Color CEA ) Text Zoom §! i Settings A (ChoiceC ) Glycogenstoragediseasescause defectivemetabolismof glycogenin the liverand/or , growthretardation, , lacticacidosis, hepatomegaly muscles. The presentationcan includehypoglycemia and/or musclefatigue/cramping. Cardiomegalycan occurwith Pompe disease, but cornealcloudingis not a feature. (Choice E ) Niemann-Pick disease resultsfrom a deficiencyof sphingomyelinase , whichleads to the accumulationof sphingomyelinwithinphagocytes. This disease is characterizedby hepatosplenomegaly and progressiveneurologicdeterioration , but eye findingsincludea cherry-red spot on the macula, not cornealclouding. Educational objective : Hurler syndromeis a mucopolysaccharidosis caused by a deficiencyof alpha-L-iduronidase, which hydrolyzesdermatanand heparan sulfate. Accumulationof these substancesresultsin the characteristic , coarse facialfeatures, cornealclouding , and hepatosplenomegaly . Early featuresof intellectualdisability death due to cardiaccomplications(eg, myocardialinfarction) is expected. References • Early diseaseprogressionof Hurler syndrome. Block Time Remaining:00:02:05 TUTOR https://t.me/USMLEWorldStep1 i Suspend O EndBlock — Item 1 of 1 Question W: 21503 P' Mark <l Previous > Next r n L J Full Screen © Tutorial i Lab Values =* Notes Calculator Reverse Color CEA ) Text Zoom i§! Settings A ( Choice C ) Glycogenstoragediseasescause defectivemetabolismof glycogenin the liverand/or , growthretardation, , lacticacidosis, hepatomegaly muscles. The presentationcan includehypoglycemia and/or musclefatigue/cramping. Cardiomegalycan occurwith Pompe disease, but cornealcloudingis not a feature. ( Choice E) Niemann-Pick disease resultsfrom a deficiencyof sphingomyelinase , whichleads to the accumulationof sphingomyelinwithinphagocytes. This disease is characterizedby hepatosplenomegaly and progressiveneurologicdeterioration , but eye findingsincludea cherry-red spot on the macula, not cornealclouding. Educational objective : Hurler syndromeis a mucopolysaccharidosis caused by a deficiencyof alpha-L-iduronidase, which hydrolyzesdermatanand heparan sulfate. Accumulationof these substancesresultsin the characteristic , coarse facialfeatures, cornealclouding , and hepatosplenomegaly . Early featuresof intellectualdisability death due to cardiaccomplications(eg, myocardialinfarction) is expected. References • Early diseaseprogressionof Hurler syndrome. Block Time Remaining : 00:02: 05 TUTOR https://t.me/USMLEWorldStep1 i Suspend O EndBlock — Item 1 of 1 Question W: 21503 P' Mark <l Previous > Next rn L J Full Screen © Tutorial i Lab Values =* Notes Calculator Reverse Color CEA) Text Zoom i§! Settings A ( Choice C ) Glycogen storage diseases cause defective metabolism of glycogen in the liver and/or muscles. The presentation can include hypoglycemia, lactic acidosis, hepatomegaly, growth retardation, and/or muscle fatigue/cramping. Cardiomegaly can occur with Pompe disease, but corneal clouding is not a feature. ( Choice E) Niemann-Pick disease results from a deficiency of sphingomyelinase, which leads to the accumulation of sphingomyelin within phagocytes. This disease is characterized by hepatosplenomegaly and progressive neurologic deterioration, but eye findings include a cherry-red spot on the macula, not corneal clouding. Educational objective: Hurler syndrome is a mucopolysaccharidosis caused by a deficiency of alpha-L-iduronidase, which hydrolyzes dermatan and heparan sulfate. Accumulation of these substances results in the characteristic features of intellectual disability, coarse facial features, corneal clouding, and hepatosplenomegaly. Early death due to cardiac complications (eg, myocardial infarction) is expected. References • Early disease progression of Hurler syndrome. Block Time Remaining: 00:02:05 TUTOR https://t.me/USMLEWorldStep1 i Suspend O End Block — Item 1 of 1 Question W: 21503 P' Mark <l Previous > Next rn L J Full Screen © Tutorial i Lab Values =* Notes Calculator Reverse Color CEA) Text Zoom i§! Settings A ( Choice C ) Glycogen storage diseases cause defective metabolism of glycogen in the liver and/or muscles. The presentation can include hypoglycemia, lactic acidosis, hepatomegaly, growth retardation, and/or muscle fatigue/cramping. Cardiomegaly can occur with Pompe disease, but corneal clouding is not a feature. ( Choice E) Niemann-Pick disease results from a deficiency of sphingomyelinase, which leads to the accumulation of sphingomyelin within phagocytes. This disease is characterized by hepatosplenomegaly and progressive neurologic deterioration, but eye findings include a cherry-red spot on the macula, not corneal clouding. Educational objective: Hurler syndrome is a mucopolysaccharidosis caused by a deficiency of alpha-L-iduronidase, which hydrolyzes dermatan and heparan sulfate. Accumulation of these substances results in the characteristic features of intellectual disability, coarse facial features, corneal clouding, and hepatosplenomegaly. Early death due to cardiac complications (eg, myocardial infarction) is expected. References • Early disease progression of Hurler syndrome. Block Time Remaining: 00:02:05 TUTOR https://t.me/USMLEWorldStep1 i Suspend O End Block — Item1 of1 QuestionW :21503 P'Mark <l Previous > Next r n L J Full Screen © Tutorial i Lab Values =* Notes Calculator Reverse Color CEA ) Text Zoom §! i Settings A (ChoiceC ) Glycogen storage diseases cause defective metabolism of glycogen in the liver and/or muscles. The presentation can include hypoglycemia, lactic acidosis, hepatomegaly, growth retardation, and/or muscle fatigue/cramping. Cardiomegaly can occur with Pompe disease, but corneal clouding is not a feature. (Choice E ) Niemann-Pick disease results from a deficiency of sphingomyelinase, which leads to the accumulation of sphingomyelin within phagocytes. This disease is characterized by hepatosplenomegaly and progressive neurologic deterioration, but eye findings include a cherry-red spot on the macula, not corneal clouding. Educational objective : Hurler syndrome is a mucopolysaccharidosis caused by a deficiency of alpha-L-iduronidase, which hydrolyzes dermatan and heparan sulfate. Accumulation of these substances results in the characteristic features of intellectual disability, coarse facial features, corneal clouding, and hepatosplenomegaly. Early death due to cardiac complications (eg, myocardial infarction) is expected. References • Early disease progression of Hurler syndrome. Block Time Remaining:00:02:05 TUTOR https://t.me/USMLEWorldStep1 i Suspend O End Block — Item1 of1 QuestionW :21503 P'Mark <l Previous > Next r n L J Full Screen © Tutorial i Lab Values =* Notes Calculator Reverse Color CEA ) Text Zoom §! i Settings A (ChoiceC ) Glycogen storage diseases cause defective metabolism of glycogen in the liver and/or muscles. The presentation can include hypoglycemia, lactic acidosis, hepatomegaly, growth retardation, and/or muscle fatigue/cramping. Cardiomegaly can occur with Pompe disease, but corneal clouding is not a feature. (Choice E ) Niemann-Pick disease results from a deficiency of sphingomyelinase, which leads to the accumulation of sphingomyelin within phagocytes. This disease is characterized by hepatosplenomegaly and progressive neurologic deterioration, but eye findings include a cherry-red spot on the macula, not corneal clouding. Educational objective : Hurler syndrome is a mucopolysaccharidosis caused by a deficiency of alpha-L-iduronidase, which hydrolyzes dermatan and heparan sulfate. Accumulation of these substances results in the characteristic features of intellectual disability, coarse facial features, corneal clouding, and hepatosplenomegaly. Early death due to cardiac complications (eg, myocardial infarction) is expected. References • Early disease progression of Hurler syndrome. Block Time Remaining:00:02:05 TUTOR https://t.me/USMLEWorldStep1 i Suspend O End Block — Item 1 of 1 Question W: 21503 P' Mark <l Previous > Next r n L J Full Screen © Tutorial i Lab Values =* Notes Calculator Reverse Color CEA ) Text Zoom i§! Settings A ( Choice C ) Glycogenstoragediseasescause defectivemetabolismof glycogenin the liverand/or , growthretardation, , lacticacidosis, hepatomegaly muscles. The presentationcan includehypoglycemia and/or musclefatigue/cramping. Cardiomegalycan occurwith Pompe disease, but cornealcloudingis not a feature. ( Choice E) Niemann-Pick disease resultsfrom a deficiencyof sphingomyelinase , whichleads to the accumulationof sphingomyelinwithinphagocytes. This disease is characterizedby hepatosplenomegaly and progressiveneurologicdeterioration , but eye findingsincludea cherry-red spot on the macula, not cornealclouding. Educational objective : Hurler syndromeis a mucopolysaccharidosis caused by a deficiencyof alpha-L-iduronidase, which hydrolyzesdermatanand heparan sulfate. Accumulationof these substancesresultsin the characteristic , coarse facialfeatures, cornealclouding , and hepatosplenomegaly . Early featuresof intellectualdisability death due to cardiaccomplications(eg, myocardialinfarction) is expected. References • Early diseaseprogressionof Hurler syndrome. Block Time Remaining : 00:02: 05 TUTOR https://t.me/USMLEWorldStep1 i Suspend O EndBlock — Item1 of1 QuestionW :21503 P'Mark <l Previous > Next r n L J Full Screen © Tutorial i Lab Values =* Notes Calculator Reverse Color CEA ) Text Zoom §! i Settings A (ChoiceC ) Glycogen storage diseases cause defective metabolism of glycogen in the liver and/or muscles. The presentation can include hypoglycemia, lactic acidosis, hepatomegaly, growth retardation, and/or muscle fatigue/cramping. Cardiomegaly can occur with Pompe disease, but corneal clouding is not a feature. (Choice E ) Niemann-Pick disease results from a deficiency of sphingomyelinase, which leads to the accumulation of sphingomyelin within phagocytes. This disease is characterized by hepatosplenomegaly and progressive neurologic deterioration, but eye findings include a cherry-red spot on the macula, not corneal clouding. Educational objective : Hurler syndrome is a mucopolysaccharidosis caused by a deficiency of alpha-L-iduronidase, which hydrolyzes dermatan and heparan sulfate. Accumulation of these substances results in the characteristic features of intellectual disability, coarse facial features, corneal clouding, and hepatosplenomegaly. Early death due to cardiac complications (eg, myocardial infarction) is expected. References • Early disease progression of Hurler syndrome. Block Time Remaining:00:02:05 TUTOR https://t.me/USMLEWorldStep1 i Suspend O End Block — Item1 of1 QuestionW :21503 P'Mark <l Previous > Next r n L J Full Screen © Tutorial i Lab Values =* Notes Calculator Reverse Color CEA ) Text Zoom §! i Settings A (ChoiceC ) Glycogen storage diseases cause defective metabolism of glycogen in the liver and/or muscles. The presentation can include hypoglycemia, lactic acidosis, hepatomegaly, growth retardation, and/or muscle fatigue/cramping. Cardiomegaly can occur with Pompe disease, but corneal clouding is not a feature. (Choice E ) Niemann-Pick disease results from a deficiency of sphingomyelinase, which leads to the accumulation of sphingomyelin within phagocytes. This disease is characterized by hepatosplenomegaly and progressive neurologic deterioration, but eye findings include a cherry-red spot on the macula, not corneal clouding. Educational objective : Hurler syndrome is a mucopolysaccharidosis caused by a deficiency of alpha-L-iduronidase, which hydrolyzes dermatan and heparan sulfate. Accumulation of these substances results in the characteristic features of intellectual disability, coarse facial features, corneal clouding, and hepatosplenomegaly. Early death due to cardiac complications (eg, myocardial infarction) is expected. References • Early disease progression of Hurler syndrome. Block Time Remaining:00:02:05 TUTOR https://t.me/USMLEWorldStep1 i Suspend O End Block — Item 1 of 1 Question W: 21503 P' Mark <l Previous > Next rn L J Full Screen © Tutorial i Lab Values =* Notes Calculator Reverse Color CEA) Text Zoom i§! Settings A ( Choice C ) Glycogen storage diseases cause defective metabolism of glycogen in the liver and/or muscles. The presentation can include hypoglycemia, lactic acidosis, hepatomegaly, growth retardation, and/or muscle fatigue/cramping. Cardiomegaly can occur with Pompe disease, but corneal clouding is not a feature. ( Choice E) Niemann-Pick disease results from a deficiency of sphingomyelinase, which leads to the accumulation of sphingomyelin within phagocytes. This disease is characterized by hepatosplenomegaly and progressive neurologic deterioration, but eye findings include a cherry-red spot on the macula, not corneal clouding. Educational objective: Hurler syndrome is a mucopolysaccharidosis caused by a deficiency of alpha-L-iduronidase, which hydrolyzes dermatan and heparan sulfate. Accumulation of these substances results in the characteristic features of intellectual disability, coarse facial features, corneal clouding, and hepatosplenomegaly. Early death due to cardiac complications (eg, myocardial infarction) is expected. References • Early disease progression of Hurler syndrome. Block Time Remaining: 00:02:05 TUTOR https://t.me/USMLEWorldStep1 i Suspend O End Block — Item 1 of 1 Question W: 21503 P' Mark <l Previous > Next rn L J Full Screen © Tutorial i Lab Values =* Notes Calculator Reverse Color CEA) Text Zoom i§! Settings A ( Choice C ) Glycogen storage diseases cause defective metabolism of glycogen in the liver and/or muscles. The presentation can include hypoglycemia, lactic acidosis, hepatomegaly, growth retardation, and/or muscle fatigue/cramping. Cardiomegaly can occur with Pompe disease, but corneal clouding is not a feature. ( Choice E) Niemann-Pick disease results from a deficiency of sphingomyelinase, which leads to the accumulation of sphingomyelin within phagocytes. This disease is characterized by hepatosplenomegaly and progressive neurologic deterioration, but eye findings include a cherry-red spot on the macula, not corneal clouding. Educational objective: Hurler syndrome is a mucopolysaccharidosis caused by a deficiency of alpha-L-iduronidase, which hydrolyzes dermatan and heparan sulfate. Accumulation of these substances results in the characteristic features of intellectual disability, coarse facial features, corneal clouding, and hepatosplenomegaly. Early death due to cardiac complications (eg, myocardial infarction) is expected. References • Early disease progression of Hurler syndrome. Block Time Remaining: 00:02:05 TUTOR https://t.me/USMLEWorldStep1 i Suspend O End Block — Item 1 of 1 Question W: 21503 P' Mark <l Previous > Next r n L J Full Screen © Tutorial i Lab Values =* Notes Calculator Reverse Color CEA) Text Zoom i§! Settings A ( Choice C ) Glycogen storage diseases cause defective metabolism of glycogen in the liver and/or muscles. The presentation can include hypoglycemia, lactic acidosis, hepatomegaly, growth retardation, and/or muscle fatigue/cramping. Cardiomegaly can occur with Pompe disease, but corneal clouding is not a feature. ( Choice E) Niemann-Pick disease results from a deficiency of sphingomyelinase, which leads to the accumulation of sphingomyelin within phagocytes. This disease is characterized by hepatosplenomegaly and progressive neurologic deterioration, but eye findings include a cherry-red spot on the macula, not corneal clouding. Educational objective: Hurler syndrome is a mucopolysaccharidosis caused by a deficiency of alpha-L-iduronidase, which hydrolyzes dermatan and heparan sulfate. Accumulation of these substances results in the characteristic features of intellectual disability, coarse facial features, corneal clouding, and hepatosplenomegaly. Early death due to cardiac complications (eg, myocardial infarction) is expected. References • Early disease progression of Hurler syndrome. Block Time Remaining: 00:02:05 TUTOR https://t.me/USMLEWorldStep1 i Suspend O End Block — Item 1 of 1 Question W: 21503 P' Mark <l Previous > Next rn L J Full Screen © Tutorial i Lab Values =* Notes Calculator Reverse Color CEA) Text Zoom i§! Settings A ( Choice C ) Glycogen storage diseases cause defective metabolism of glycogen in the liver and/or muscles. The presentation can include hypoglycemia, lactic acidosis, hepatomegaly, growth retardation, and/or muscle fatigue/cramping. Cardiomegaly can occur with Pompe disease, but corneal clouding is not a feature. ( Choice E) Niemann-Pick disease results from a deficiency of sphingomyelinase, which leads to the accumulation of sphingomyelin within phagocytes. This disease is characterized by hepatosplenomegaly and progressive neurologic deterioration, but eye findings include a cherry-red spot on the macula, not corneal clouding. Educational objective: Hurler syndrome is a mucopolysaccharidosis caused by a deficiency of alpha-L-iduronidase, which hydrolyzes dermatan and heparan sulfate. Accumulation of these substances results in the characteristic features of intellectual disability, coarse facial features, corneal clouding, and hepatosplenomegaly. Early death due to cardiac complications (eg, myocardial infarction) is expected. References • Early disease progression of Hurler syndrome. Block Time Remaining: 00:02:05 TUTOR https://t.me/USMLEWorldStep1 i Suspend O End Block — Item1 of1 QuestionW :21503 P'Mark <l Previous > Next r n L J Full Screen © Tutorial i Lab Values =* Notes Calculator Reverse Color CEA ) Text Zoom §! i Settings A (ChoiceC ) Glycogen storage diseases cause defective metabolism of glycogen in the liver and/or muscles. The presentation can include hypoglycemia, lactic acidosis, hepatomegaly, growth retardation, and/or muscle fatigue/cramping. Cardiomegaly can occur with Pompe disease, but corneal clouding is not a feature. (Choice E ) Niemann-Pick disease results from a deficiency of sphingomyelinase, which leads to the accumulation of sphingomyelin within phagocytes. This disease is characterized by hepatosplenomegaly and progressive neurologic deterioration, but eye findings include a cherry-red spot on the macula, not corneal clouding. Educational objective : Hurler syndrome is a mucopolysaccharidosis caused by a deficiency of alpha-L-iduronidase, which hydrolyzes dermatan and heparan sulfate. Accumulation of these substances results in the characteristic features of intellectual disability, coarse facial features, corneal clouding, and hepatosplenomegaly. Early death due to cardiac complications (eg, myocardial infarction) is expected. References • Early disease progression of Hurler syndrome. Block Time Remaining:00:02:05 TUTOR https://t.me/USMLEWorldStep1 i Suspend O End Block — Item 1 of 1 Question W: 21503 P' Mark <l Previous > Next rn L J Full Screen © Tutorial i Lab Values =* Notes Calculator Reverse Color CEA) Text Zoom i§! Settings A ( Choice C ) Glycogen storage diseases cause defective metabolism of glycogen in the liver and/or muscles. The presentation can include hypoglycemia, lactic acidosis, hepatomegaly, growth retardation, and/or muscle fatigue/cramping. Cardiomegaly can occur with Pompe disease, but corneal clouding is not a feature. ( Choice E) Niemann-Pick disease results from a deficiency of sphingomyelinase, which leads to the accumulation of sphingomyelin within phagocytes. This disease is characterized by hepatosplenomegaly and progressive neurologic deterioration, but eye findings include a cherry-red spot on the macula, not corneal clouding. Educational objective: Hurler syndrome is a mucopolysaccharidosis caused by a deficiency of alpha-L-iduronidase, which hydrolyzes dermatan and heparan sulfate. Accumulation of these substances results in the characteristic features of intellectual disability, coarse facial features, corneal clouding, and hepatosplenomegaly. Early death due to cardiac complications (eg, myocardial infarction) is expected. References • Early disease progression of Hurler syndrome. Block Time Remaining: 00:02:05 TUTOR https://t.me/USMLEWorldStep1 i Suspend O End Block — Item 1 of 1 Question W: 21503 P' Mark <l Previous > Next rn L J Full Screen © Tutorial i Lab Values =* Notes Calculator Reverse Color CEA ) Text Zoom i§! Settings A ( Choice C ) Glycogenstoragediseasescause defectivemetabolismof glycogenin the liverand/or , growthretardation, , lacticacidosis, hepatomegaly muscles. The presentationcan includehypoglycemia and/or musclefatigue/cramping. Cardiomegalycan occurwith Pompe disease, but cornealcloudingis not a feature. ( Choice E) Niemann-Pick disease resultsfrom a deficiencyof sphingomyelinase , whichleads to the accumulationof sphingomyelinwithinphagocytes. This disease is characterizedby hepatosplenomegaly and progressiveneurologicdeterioration , but eye findingsincludea cherry-red spot on the macula, not cornealclouding. Educational objective : Hurler syndromeis a mucopolysaccharidosis caused by a deficiencyof alpha-L-iduronidase, which hydrolyzesdermatanand heparan sulfate. Accumulationof these substancesresultsin the characteristic , coarse facialfeatures, cornealclouding , and hepatosplenomegaly . Early featuresof intellectualdisability death due to cardiaccomplications(eg, myocardialinfarction) is expected. References • Early diseaseprogressionof Hurler syndrome. Block Time Remaining : 00:02: 05 TUTOR https://t.me/USMLEWorldStep1 i Suspend O EndBlock — Item 1 of 1 Question W: 21503 P' Mark <l Previous > Next r n L J Full Screen © Tutorial i Lab Values =* Notes Calculator Reverse Color CEA ) Text Zoom i§! Settings A ( Choice C ) Glycogenstoragediseasescause defectivemetabolismof glycogenin the liverand/or , growthretardation, , lacticacidosis, hepatomegaly muscles. The presentationcan includehypoglycemia and/or musclefatigue/cramping. Cardiomegalycan occurwith Pompe disease, but cornealcloudingis not a feature. ( Choice E) Niemann-Pick disease resultsfrom a deficiencyof sphingomyelinase , whichleads to the accumulationof sphingomyelinwithinphagocytes. This disease is characterizedby hepatosplenomegaly and progressiveneurologicdeterioration , but eye findingsincludea cherry-red spot on the macula, not cornealclouding. Educational objective : Hurler syndromeis a mucopolysaccharidosis caused by a deficiencyof alpha-L-iduronidase, which hydrolyzesdermatanand heparan sulfate. Accumulationof these substancesresultsin the characteristic , coarse facialfeatures, cornealclouding , and hepatosplenomegaly . Early featuresof intellectualdisability death due to cardiaccomplications(eg, myocardialinfarction) is expected. References • Early diseaseprogressionof Hurler syndrome. Block Time Remaining : 00:02: 05 TUTOR https://t.me/USMLEWorldStep1 i Suspend O EndBlock — Item 1 of 1 Question W: 21503 P' Mark <l Previous > Next r n L J Full Screen © Tutorial i Lab Values =* Notes Calculator Reverse Color CEA ) Text Zoom i§! Settings A ( Choice C ) Glycogenstoragediseasescause defectivemetabolismof glycogenin the liverand/or , growthretardation, , lacticacidosis, hepatomegaly muscles. The presentationcan includehypoglycemia and/or musclefatigue/cramping. Cardiomegalycan occurwith Pompe disease, but cornealcloudingis not a feature. ( Choice E) Niemann-Pick disease resultsfrom a deficiencyof sphingomyelinase , whichleads to the accumulationof sphingomyelinwithinphagocytes. This disease is characterizedby hepatosplenomegaly and progressiveneurologicdeterioration , but eye findingsincludea cherry-red spot on the macula, not cornealclouding. Educational objective : Hurler syndromeis a mucopolysaccharidosis caused by a deficiencyof alpha-L-iduronidase, which hydrolyzesdermatanand heparan sulfate. Accumulationof these substancesresultsin the characteristic , coarse facialfeatures, cornealclouding , and hepatosplenomegaly . Early featuresof intellectualdisability death due to cardiaccomplications(eg, myocardialinfarction) is expected. References • Early diseaseprogressionof Hurler syndrome. Block Time Remaining : 00:02: 05 TUTOR https://t.me/USMLEWorldStep1 i Suspend O EndBlock — Item 1 of 1 Question W: 21503 P' Mark <l Previous > Next r n L J Full Screen © Tutorial i Lab Values =* Notes Calculator Reverse Color CEA ) Text Zoom i§! Settings A ( Choice C ) Glycogenstoragediseasescause defectivemetabolismof glycogenin the liverand/or , growthretardation, , lacticacidosis, hepatomegaly muscles. The presentationcan includehypoglycemia and/or musclefatigue/cramping. Cardiomegalycan occurwith Pompe disease, but cornealcloudingis not a feature. ( Choice E) Niemann-Pick disease resultsfrom a deficiencyof sphingomyelinase , whichleads to the accumulationof sphingomyelinwithinphagocytes. This disease is characterizedby hepatosplenomegaly and progressiveneurologicdeterioration , but eye findingsincludea cherry-red spot on the macula, not cornealclouding. Educational objective : Hurler syndromeis a mucopolysaccharidosis caused by a deficiencyof alpha-L-iduronidase, which hydrolyzesdermatanand heparan sulfate. Accumulationof these substancesresultsin the characteristic , coarse facialfeatures, cornealclouding , and hepatosplenomegaly . Early featuresof intellectualdisability death due to cardiaccomplications(eg, myocardialinfarction) is expected. References • Early diseaseprogressionof Hurler syndrome. Block Time Remaining : 00:02: 05 TUTOR https://t.me/USMLEWorldStep1 i Suspend O EndBlock — Item1 of1 QuestionW :21503 P'Mark <l Previous > Next r n L J Full Screen © Tutorial i Lab Values =* Notes Calculator Reverse Color CEA ) Text Zoom §! i Settings A (ChoiceC ) Glycogen storage diseases cause defective metabolism of glycogen in the liver and/or muscles. The presentation can include hypoglycemia, lactic acidosis, hepatomegaly, growth retardation, and/or muscle fatigue/cramping. Cardiomegaly can occur with Pompe disease, but corneal clouding is not a feature. (Choice E ) Niemann-Pick disease results from a deficiency of sphingomyelinase, which leads to the accumulation of sphingomyelin within phagocytes. This disease is characterized by hepatosplenomegaly and progressive neurologic deterioration, but eye findings include a cherry-red spot on the macula, not corneal clouding. Educational objective : Hurler syndrome is a mucopolysaccharidosis caused by a deficiency of alpha-L-iduronidase, which hydrolyzes dermatan and heparan sulfate. Accumulation of these substances results in the characteristic features of intellectual disability, coarse facial features, corneal clouding, and hepatosplenomegaly. Early death due to cardiac complications (eg, myocardial infarction) is expected. References • Early disease progression of Hurler syndrome. Block Time Remaining:00:02:05 TUTOR https://t.me/USMLEWorldStep1 i Suspend O End Block — Item1 of1 QuestionW :21503 P'Mark <l Previous > Next r n L J Full Screen © Tutorial i Lab Values =* Notes Calculator Reverse Color CEA ) Text Zoom §! i Settings A (ChoiceC ) Glycogen storage diseases cause defective metabolism of glycogen in the liver and/or muscles. The presentation can include hypoglycemia, lactic acidosis, hepatomegaly, growth retardation, and/or muscle fatigue/cramping. Cardiomegaly can occur with Pompe disease, but corneal clouding is not a feature. (Choice E ) Niemann-Pick disease results from a deficiency of sphingomyelinase, which leads to the accumulation of sphingomyelin within phagocytes. This disease is characterized by hepatosplenomegaly and progressive neurologic deterioration, but eye findings include a cherry-red spot on the macula, not corneal clouding. Educational objective : Hurler syndrome is a mucopolysaccharidosis caused by a deficiency of alpha-L-iduronidase, which hydrolyzes dermatan and heparan sulfate. Accumulation of these substances results in the characteristic features of intellectual disability, coarse facial features, corneal clouding, and hepatosplenomegaly. Early death due to cardiac complications (eg, myocardial infarction) is expected. References • Early disease progression of Hurler syndrome. Block Time Remaining:00:02:05 TUTOR https://t.me/USMLEWorldStep1 i Suspend O End Block — Item 1 of 1 Question W: 21503 P' Mark <l Previous > Next r n L J Full Screen © Tutorial i Lab Values =* Notes Calculator Reverse Color CEA ) Text Zoom i§! Settings A ( Choice C ) Glycogenstoragediseasescause defectivemetabolismof glycogenin the liverand/or , growthretardation, , lacticacidosis, hepatomegaly muscles. The presentationcan includehypoglycemia and/or musclefatigue/cramping. Cardiomegalycan occurwith Pompe disease, but cornealcloudingis not a feature. ( Choice E) Niemann-Pick disease resultsfrom a deficiencyof sphingomyelinase , whichleads to the accumulationof sphingomyelinwithinphagocytes. This disease is characterizedby hepatosplenomegaly and progressiveneurologicdeterioration , but eye findingsincludea cherry-red spot on the macula, not cornealclouding. Educational objective : Hurler syndromeis a mucopolysaccharidosis caused by a deficiencyof alpha-L-iduronidase, which hydrolyzesdermatanand heparan sulfate. Accumulationof these substancesresultsin the characteristic , coarse facialfeatures, cornealclouding , and hepatosplenomegaly . Early featuresof intellectualdisability death due to cardiaccomplications(eg, myocardialinfarction) is expected. References • Early diseaseprogressionof Hurler syndrome. Block Time Remaining : 00:02: 05 TUTOR https://t.me/USMLEWorldStep1 i Suspend O EndBlock — Item 1 of 1 Question W: 21503 P' Mark <l Previous > Next r n L J Full Screen © Tutorial i Lab Values =* Notes Calculator Reverse Color CEA ) Text Zoom i§! Settings A ( Choice C ) Glycogenstoragediseasescause defectivemetabolismof glycogenin the liverand/or , growthretardation, , lacticacidosis, hepatomegaly muscles. The presentationcan includehypoglycemia and/or musclefatigue/cramping. Cardiomegalycan occurwith Pompe disease, but cornealcloudingis not a feature. ( Choice E) Niemann-Pick disease resultsfrom a deficiencyof sphingomyelinase , whichleads to the accumulationof sphingomyelinwithinphagocytes. This disease is characterizedby hepatosplenomegaly and progressiveneurologicdeterioration , but eye findingsincludea cherry-red spot on the macula, not cornealclouding. Educational objective : Hurler syndromeis a mucopolysaccharidosis caused by a deficiencyof alpha-L-iduronidase, which hydrolyzesdermatanand heparan sulfate. Accumulationof these substancesresultsin the characteristic , coarse facialfeatures, cornealclouding , and hepatosplenomegaly . Early featuresof intellectualdisability death due to cardiaccomplications(eg, myocardialinfarction) is expected. References • Early diseaseprogressionof Hurler syndrome. Block Time Remaining : 00:02: 05 TUTOR https://t.me/USMLEWorldStep1 i Suspend O EndBlock — Item 1 of 1 Question W: 21503 P' Mark <l Previous > Next rn L J Full Screen © Tutorial i Lab Values =* Notes Calculator Reverse Color CEA) Text Zoom i§! Settings A ( Choice C ) Glycogen storage diseases cause defective metabolism of glycogen in the liver and/or muscles. The presentation can include hypoglycemia, lactic acidosis, hepatomegaly, growth retardation, and/or muscle fatigue/cramping. Cardiomegaly can occur with Pompe disease, but corneal clouding is not a feature. ( Choice E) Niemann-Pick disease results from a deficiency of sphingomyelinase, which leads to the accumulation of sphingomyelin within phagocytes. This disease is characterized by hepatosplenomegaly and progressive neurologic deterioration, but eye findings include a cherry-red spot on the macula, not corneal clouding. Educational objective: Hurler syndrome is a mucopolysaccharidosis caused by a deficiency of alpha-L-iduronidase, which hydrolyzes dermatan and heparan sulfate. Accumulation of these substances results in the characteristic features of intellectual disability, coarse facial features, corneal clouding, and hepatosplenomegaly. Early death due to cardiac complications (eg, myocardial infarction) is expected. References • Early disease progression of Hurler syndrome. Block Time Remaining: 00:02:05 TUTOR https://t.me/USMLEWorldStep1 i Suspend O End Block — Item 1 of 1 Question W: 21503 P' Mark <l Previous > Next rn L J Full Screen © Tutorial i Lab Values =* Notes Calculator Reverse Color CEA) Text Zoom i§! Settings A ( Choice C ) Glycogen storage diseases cause defective metabolism of glycogen in the liver and/or muscles. The presentation can include hypoglycemia, lactic acidosis, hepatomegaly, growth retardation, and/or muscle fatigue/cramping. Cardiomegaly can occur with Pompe disease, but corneal clouding is not a feature. ( Choice E) Niemann-Pick disease results from a deficiency of sphingomyelinase, which leads to the accumulation of sphingomyelin within phagocytes. This disease is characterized by hepatosplenomegaly and progressive neurologic deterioration, but eye findings include a cherry-red spot on the macula, not corneal clouding. Educational objective: Hurler syndrome is a mucopolysaccharidosis caused by a deficiency of alpha-L-iduronidase, which hydrolyzes dermatan and heparan sulfate. Accumulation of these substances results in the characteristic features of intellectual disability, coarse facial features, corneal clouding, and hepatosplenomegaly. Early death due to cardiac complications (eg, myocardial infarction) is expected. References • Early disease progression of Hurler syndrome. Block Time Remaining: 00:02:05 TUTOR https://t.me/USMLEWorldStep1 i Suspend O End Block — Item 1 of 1 Question W: 21503 P' Mark <l Previous > Next rn L J Full Screen © Tutorial i Lab Values =* Notes Calculator Reverse Color CEA) Text Zoom i§! Settings A ( Choice C ) Glycogen storage diseases cause defective metabolism of glycogen in the liver and/or muscles. The presentation can include hypoglycemia, lactic acidosis, hepatomegaly, growth retardation, and/or muscle fatigue/cramping. Cardiomegaly can occur with Pompe disease, but corneal clouding is not a feature. ( Choice E) Niemann-Pick disease results from a deficiency of sphingomyelinase, which leads to the accumulation of sphingomyelin within phagocytes. This disease is characterized by hepatosplenomegaly and progressive neurologic deterioration, but eye findings include a cherry-red spot on the macula, not corneal clouding. Educational objective: Hurler syndrome is a mucopolysaccharidosis caused by a deficiency of alpha-L-iduronidase, which hydrolyzes dermatan and heparan sulfate. Accumulation of these substances results in the characteristic features of intellectual disability, coarse facial features, corneal clouding, and hepatosplenomegaly. Early death due to cardiac complications (eg, myocardial infarction) is expected. References • Early disease progression of Hurler syndrome. Block Time Remaining: 00:02:05 TUTOR https://t.me/USMLEWorldStep1 i Suspend O End Block — Item 1 of 1 Question W: 21503 P' Mark <l Previous > Next rn L J Full Screen © Tutorial i Lab Values =* Notes Calculator Reverse Color CEA) Text Zoom i§! Settings A ( Choice C ) Glycogen storage diseases cause defective metabolism of glycogen in the liver and/or muscles. The presentation can include hypoglycemia, lactic acidosis, hepatomegaly, growth retardation, and/or muscle fatigue/cramping. Cardiomegaly can occur with Pompe disease, but corneal clouding is not a feature. ( Choice E) Niemann-Pick disease results from a deficiency of sphingomyelinase, which leads to the accumulation of sphingomyelin within phagocytes. This disease is characterized by hepatosplenomegaly and progressive neurologic deterioration, but eye findings include a cherry-red spot on the macula, not corneal clouding. Educational objective: Hurler syndrome is a mucopolysaccharidosis caused by a deficiency of alpha-L-iduronidase, which hydrolyzes dermatan and heparan sulfate. Accumulation of these substances results in the characteristic features of intellectual disability, coarse facial features, corneal clouding, and hepatosplenomegaly. Early death due to cardiac complications (eg, myocardial infarction) is expected. References • Early disease progression of Hurler syndrome. Block Time Remaining: 00:02:05 TUTOR https://t.me/USMLEWorldStep1 i Suspend O End Block — Item1 of1 QuestionW :21503 P'Mark <l Previous > Next r n L J Full Screen © Tutorial i Lab Values =* Notes Calculator Reverse Color CEA ) Text Zoom §! i Settings A (ChoiceC ) Glycogen storage diseases cause defective metabolism of glycogen in the liver and/or muscles. The presentation can include hypoglycemia, lactic acidosis, hepatomegaly, growth retardation, and/or muscle fatigue/cramping. Cardiomegaly can occur with Pompe disease, but corneal clouding is not a feature. (Choice E ) Niemann-Pick disease results from a deficiency of sphingomyelinase, which leads to the accumulation of sphingomyelin within phagocytes. This disease is characterized by hepatosplenomegaly and progressive neurologic deterioration, but eye findings include a cherry-red spot on the macula, not corneal clouding. Educational objective : Hurler syndrome is a mucopolysaccharidosis caused by a deficiency of alpha-L-iduronidase, which hydrolyzes dermatan and heparan sulfate. Accumulation of these substances results in the characteristic features of intellectual disability, coarse facial features, corneal clouding, and hepatosplenomegaly. Early death due to cardiac complications (eg, myocardial infarction) is expected. References • Early disease progression of Hurler syndrome. Block Time Remaining:00:02:05 TUTOR https://t.me/USMLEWorldStep1 i Suspend O End Block — Item 1 of 1 Question W: 21503 P' Mark <l Previous > Next r n L J Full Screen © Tutorial i Lab Values =* Notes Calculator Reverse Color CEA) Text Zoom i§! Settings A ( Choice C ) Glycogen storage diseases cause defective metabolism of glycogen in the liver and /or muscles . The presentation can include hypoglycemia , lactic acidosis , hepatomegaly , growth retardation, and /or muscle fatigue /cramping. Cardiomegaly can occur with Pompe disease , but corneal clouding is not a feature. ( Choice E) Niemann -Pick disease results from a deficiency of sphingomyelinase , which leads to the accumulation of sphingomyelin within phagocytes . This disease is characterized by hepatosplenomegaly and progressive neurologic deterioration, but eye findings include a cherry-red spot on the macula , not corneal clouding . Educational objective: Hurler syndrome is a mucopolysaccharidosis caused by a deficiency of alpha -L-iduronidase , which hydrolyzes dermatan and heparan sulfate . Accumulation of these substances results in the characteristic features of intellectual disability, coarse facial features , corneal clouding, and hepatosplenomegaly . Early death due to cardiac complications (eg , myocardial infarction) is expected . References • Early disease progression of Hurler syndrome . Block Time Remaining: 00:02:05 TUTOR https://t.me /USMLEWorldStep1 i Suspend O End Block — Item 1 of 1 Question W: 21503 P' Mark <l Previous > Next r n L J Full Screen © Tutorial i Lab Values =* Notes Calculator Reverse Color CEA ) Text Zoom i§! Settings A ( Choice C ) Glycogenstoragediseasescause defectivemetabolismof glycogenin the liverand/or , growthretardation, , lacticacidosis, hepatomegaly muscles. The presentationcan includehypoglycemia and/or musclefatigue/cramping. Cardiomegalycan occurwith Pompe disease, but cornealcloudingis not a feature. ( Choice E) Niemann-Pick disease resultsfrom a deficiencyof sphingomyelinase , whichleads to the accumulationof sphingomyelinwithinphagocytes. This disease is characterizedby hepatosplenomegaly and progressiveneurologicdeterioration , but eye findingsincludea cherry-red spot on the macula, not cornealclouding. Educational objective : Hurler syndromeis a mucopolysaccharidosis caused by a deficiencyof alpha-L-iduronidase, which hydrolyzesdermatanand heparan sulfate. Accumulationof these substancesresultsin the characteristic , coarse facialfeatures, cornealclouding , and hepatosplenomegaly . Early featuresof intellectualdisability death due to cardiaccomplications(eg, myocardialinfarction) is expected. References • Early diseaseprogressionof Hurler syndrome. Block Time Remaining : 00:02: 05 TUTOR https://t.me/USMLEWorldStep1 i Suspend O EndBlock — Item 1 of 1 Question W: 21503 P' Mark <l Previous > Next rn L J Full Screen © Tutorial i Lab Values =* Notes Calculator Reverse Color CEA) Text Zoom i§! Settings A ( Choice C ) Glycogen storage diseases cause defective metabolism of glycogen in the liver and/or muscles. The presentation can include hypoglycemia, lactic acidosis, hepatomegaly, growth retardation, and/or muscle fatigue/cramping. Cardiomegaly can occur with Pompe disease, but corneal clouding is not a feature. ( Choice E) Niemann-Pick disease results from a deficiency of sphingomyelinase, which leads to the accumulation of sphingomyelin within phagocytes. This disease is characterized by hepatosplenomegaly and progressive neurologic deterioration, but eye findings include a cherry-red spot on the macula, not corneal clouding. Educational objective: Hurler syndrome is a mucopolysaccharidosis caused by a deficiency of alpha-L-iduronidase, which hydrolyzes dermatan and heparan sulfate. Accumulation of these substances results in the characteristic features of intellectual disability, coarse facial features, corneal clouding, and hepatosplenomegaly. Early death due to cardiac complications (eg, myocardial infarction) is expected. References • Early disease progression of Hurler syndrome. Block Time Remaining: 00:02:05 TUTOR https://t.me/USMLEWorldStep1 i Suspend O End Block — Item 1 of 1 Question W: 21503 P' Mark <l Previous > Next r n L J Full Screen © Tutorial i Lab Values =* Notes Calculator Reverse Color CEA ) Text Zoom i§! Settings A ( Choice C ) Glycogenstoragediseasescause defectivemetabolismof glycogenin the liverand/or , growthretardation, , lacticacidosis, hepatomegaly muscles. The presentationcan includehypoglycemia and/or musclefatigue/cramping. Cardiomegalycan occurwith Pompe disease, but cornealcloudingis not a feature. ( Choice E) Niemann-Pick disease resultsfrom a deficiencyof sphingomyelinase , whichleads to the accumulationof sphingomyelinwithinphagocytes. This disease is characterizedby hepatosplenomegaly and progressiveneurologicdeterioration , but eye findingsincludea cherry-red spot on the macula, not cornealclouding. Educational objective : Hurler syndromeis a mucopolysaccharidosis caused by a deficiencyof alpha-L-iduronidase, which hydrolyzesdermatanand heparan sulfate. Accumulationof these substancesresultsin the characteristic , coarse facialfeatures, cornealclouding , and hepatosplenomegaly . Early featuresof intellectualdisability death due to cardiaccomplications(eg, myocardialinfarction) is expected. References • Early diseaseprogressionof Hurler syndrome. Block Time Remaining : 00:02: 05 TUTOR https://t.me/USMLEWorldStep1 i Suspend O EndBlock — Item1 of1 QuestionW :21503 P'Mark <l Previous > Next r n L J Full Screen © Tutorial i Lab Values =* Notes Calculator Reverse Color CEA ) Text Zoom §! i Settings A (ChoiceC ) Glycogenstoragediseasescause defectivemetabolismof glycogenin the liverand/or , growthretardation, , lacticacidosis, hepatomegaly muscles. The presentationcan includehypoglycemia and/or musclefatigue/cramping. Cardiomegalycan occurwith Pompe disease, but cornealcloudingis not a feature. (Choice E ) Niemann-Pick disease resultsfrom a deficiencyof sphingomyelinase , whichleads to the accumulationof sphingomyelinwithinphagocytes. This disease is characterizedby hepatosplenomegaly and progressiveneurologicdeterioration , but eye findingsincludea cherry-red spot on the macula, not cornealclouding. Educational objective : Hurler syndromeis a mucopolysaccharidosis caused by a deficiencyof alpha-L-iduronidase, which hydrolyzesdermatanand heparan sulfate. Accumulationof these substancesresultsin the characteristic , coarse facialfeatures, cornealclouding , and hepatosplenomegaly . Early featuresof intellectualdisability death due to cardiaccomplications(eg, myocardialinfarction) is expected. References • Early diseaseprogressionof Hurler syndrome. Block Time Remaining:00:02:05 TUTOR https://t.me/USMLEWorldStep1 i Suspend O EndBlock — Item 1 of 1 Question W: 21503 P' Mark <l Previous > Next r n L J Full Screen © Tutorial i Lab Values =* Notes Calculator Reverse Color CEA ) Text Zoom i§! Settings A ( Choice C ) Glycogenstoragediseasescause defectivemetabolismof glycogenin the liverand/or , growthretardation, , lacticacidosis, hepatomegaly muscles. The presentationcan includehypoglycemia and/or musclefatigue/cramping. Cardiomegalycan occurwith Pompe disease, but cornealcloudingis not a feature. ( Choice E) Niemann-Pick disease resultsfrom a deficiencyof sphingomyelinase , whichleads to the accumulationof sphingomyelinwithinphagocytes. This disease is characterizedby hepatosplenomegaly and progressiveneurologicdeterioration , but eye findingsincludea cherry-red spot on the macula, not cornealclouding. Educational objective : Hurler syndromeis a mucopolysaccharidosis caused by a deficiencyof alpha-L-iduronidase, which hydrolyzesdermatanand heparan sulfate. Accumulationof these substancesresultsin the characteristic , coarse facialfeatures, cornealclouding , and hepatosplenomegaly . Early featuresof intellectualdisability death due to cardiaccomplications(eg, myocardialinfarction) is expected. References • Early diseaseprogressionof Hurler syndrome. Block Time Remaining : 00:02: 05 TUTOR https://t.me/USMLEWorldStep1 i Suspend O EndBlock — Item1 of1 QuestionW :21503 P'Mark <l Previous > Next r n L J Full Screen © Tutorial i Lab Values =* Notes Calculator Reverse Color CEA ) Text Zoom §! i Settings A (ChoiceC ) Glycogenstoragediseasescause defectivemetabolismof glycogenin the liverand/or , growthretardation, , lacticacidosis, hepatomegaly muscles. The presentationcan includehypoglycemia and/or musclefatigue/cramping. Cardiomegalycan occurwith Pompe disease, but cornealcloudingis not a feature. (Choice E ) Niemann-Pick disease resultsfrom a deficiencyof sphingomyelinase , whichleads to the accumulationof sphingomyelinwithinphagocytes. This disease is characterizedby hepatosplenomegaly and progressiveneurologicdeterioration , but eye findingsincludea cherry-red spot on the macula, not cornealclouding. Educational objective : Hurler syndromeis a mucopolysaccharidosis caused by a deficiencyof alpha-L-iduronidase, which hydrolyzesdermatanand heparan sulfate. Accumulationof these substancesresultsin the characteristic , coarse facialfeatures, cornealclouding , and hepatosplenomegaly . Early featuresof intellectualdisability death due to cardiaccomplications(eg, myocardialinfarction) is expected. References • Early diseaseprogressionof Hurler syndrome. Block Time Remaining:00:02:05 TUTOR https://t.me/USMLEWorldStep1 i Suspend O EndBlock — Item 1 of 1 Question W: 21503 P' Mark <l Previous > Next rn L J Full Screen © Tutorial i Lab Values =* Notes Calculator Reverse Color CEA) Text Zoom i§! Settings A ( Choice C ) Glycogen storage diseases cause defective metabolism of glycogen in the liver and/or muscles. The presentation can include hypoglycemia, lactic acidosis, hepatomegaly, growth retardation, and/or muscle fatigue/cramping. Cardiomegaly can occur with Pompe disease, but corneal clouding is not a feature. ( Choice E) Niemann-Pick disease results from a deficiency of sphingomyelinase, which leads to the accumulation of sphingomyelin within phagocytes. This disease is characterized by hepatosplenomegaly and progressive neurologic deterioration, but eye findings include a cherry-red spot on the macula, not corneal clouding. Educational objective: Hurler syndrome is a mucopolysaccharidosis caused by a deficiency of alpha-L-iduronidase, which hydrolyzes dermatan and heparan sulfate. Accumulation of these substances results in the characteristic features of intellectual disability, coarse facial features, corneal clouding, and hepatosplenomegaly. Early death due to cardiac complications (eg, myocardial infarction) is expected. References • Early disease progression of Hurler syndrome. Block Time Remaining: 00:02:05 TUTOR https://t.me/USMLEWorldStep1 i Suspend O End Block — Item 1 of 1 Question W: 21503 P' Mark <l Previous > Next rn L J Full Screen © Tutorial i Lab Values =* Notes Calculator Reverse Color CEA) Text Zoom i§! Settings A ( Choice C ) Glycogen storage diseases cause defective metabolism of glycogen in the liver and/or muscles. The presentation can include hypoglycemia, lactic acidosis, hepatomegaly, growth retardation, and/or muscle fatigue/cramping. Cardiomegaly can occur with Pompe disease, but corneal clouding is not a feature. ( Choice E) Niemann-Pick disease results from a deficiency of sphingomyelinase, which leads to the accumulation of sphingomyelin within phagocytes. This disease is characterized by hepatosplenomegaly and progressive neurologic deterioration, but eye findings include a cherry-red spot on the macula, not corneal clouding. Educational objective: Hurler syndrome is a mucopolysaccharidosis caused by a deficiency of alpha-L-iduronidase, which hydrolyzes dermatan and heparan sulfate. Accumulation of these substances results in the characteristic features of intellectual disability, coarse facial features, corneal clouding, and hepatosplenomegaly. Early death due to cardiac complications (eg, myocardial infarction) is expected. References • Early disease progression of Hurler syndrome. Block Time Remaining: 00:02:05 TUTOR https://t.me/USMLEWorldStep1 i Suspend O End Block — Item 1 of 1 Question W: 21503 P' Mark <l > Previous Next r n L J Full Screen © Tutorial i LabValues =* Notes Calculator ReverseColor CEA) TextZoom i§! Settings A ( Choice C ) Glycogenstorage diseases ofglycogen intheliver causedefective metabolism and/or hypoglycemia ,growthretardation , . The presentation ,lactic muscles acidosis can include ,hepatomegaly /cramping canoccurwithPompe disease and/ormusclefatigue isnot ,butcorneal clouding . Cardiomegaly a feature . ( Choice E) Niemann-Pickdiseaseresults ,whichleadstothe froma deficiency ofsphingomyelinase accumulation ofsphingomyelin phagocytes by hepatosplenomegaly within . Thisdiseaseischaracterized neurologic a cherry and progressive deterioration include ,buteye findings -redspoton themacula,not clouding corneal . Educational objective: ,which syndromeisa mucopolysaccharidosis Hurler ofalpha causedby a deficiency -L-iduronidase hydrolyzes results ofthesesubstances dermatanand heparansulfate inthecharacteristic . Accumulation ofintellectual features ,coarsefacial disability clouding ,corneal ,and hepatosplenomegaly . Early features (eg,myocardial )isexpected complications deathdue tocardiac infarction . References ofHurler syndrome. • Earlydiseaseprogression Block Time Remaining: 00:02:05 TUTOR https ://t.me /USMLEWorldStep1 i O Suspend End Block — Item1 of1 QuestionW :21503 P'Mark <l Previous > Next r n L J Full Screen © Tutorial i Lab Values =* Notes Calculator Reverse Color CEA ) Text Zoom §! i Settings A (ChoiceC ) Glycogen storage diseases cause defective metabolism of glycogen in the liver and/or muscles. The presentation can include hypoglycemia, lactic acidosis, hepatomegaly, growth retardation, and/or muscle fatigue/cramping. Cardiomegaly can occur with Pompe disease, but corneal clouding is not a feature. (Choice E ) Niemann-Pick disease results from a deficiency of sphingomyelinase, which leads to the accumulation of sphingomyelin within phagocytes. This disease is characterized by hepatosplenomegaly and progressive neurologic deterioration, but eye findings include a cherry-red spot on the macula, not corneal clouding. Educational objective : Hurler syndrome is a mucopolysaccharidosis caused by a deficiency of alpha-L-iduronidase, which hydrolyzes dermatan and heparan sulfate. Accumulation of these substances results in the characteristic features of intellectual disability, coarse facial features, corneal clouding, and hepatosplenomegaly. Early death due to cardiac complications (eg, myocardial infarction) is expected. References • Early disease progression of Hurler syndrome. Block Time Remaining:00:02:05 TUTOR https://t.me/USMLEWorldStep1 i Suspend O End Block — Item 1 of 1 Question W: 21503 P' Mark <l Previous > Next rn L J Full Screen © Tutorial i Lab Values =* Notes Calculator Reverse Color CEA) Text Zoom i§! Settings A ( Choice C ) Glycogen storage diseases cause defective metabolism of glycogen in the liver and/or muscles. The presentation can include hypoglycemia, lactic acidosis, hepatomegaly, growth retardation, and/or muscle fatigue/cramping. Cardiomegaly can occur with Pompe disease, but corneal clouding is not a feature. ( Choice E) Niemann-Pick disease results from a deficiency of sphingomyelinase, which leads to the accumulation of sphingomyelin within phagocytes. This disease is characterized by hepatosplenomegaly and progressive neurologic deterioration, but eye findings include a cherry-red spot on the macula, not corneal clouding. Educational objective: Hurler syndrome is a mucopolysaccharidosis caused by a deficiency of alpha-L-iduronidase, which hydrolyzes dermatan and heparan sulfate. Accumulation of these substances results in the characteristic features of intellectual disability, coarse facial features, corneal clouding, and hepatosplenomegaly. Early death due to cardiac complications (eg, myocardial infarction) is expected. References • Early disease progression of Hurler syndrome. Block Time Remaining: 00:02:05 TUTOR https://t.me/USMLEWorldStep1 i Suspend O End Block — Item1 of1 QuestionW :21503 P'Mark <l Previous > Next r n L J Full Screen © Tutorial i Lab Values =* Notes Calculator Reverse Color CEA ) Text Zoom §! i Settings A (ChoiceC ) Glycogenstoragediseasescause defectivemetabolismof glycogenin the liverand/or , growthretardation, , lacticacidosis, hepatomegaly muscles. The presentationcan includehypoglycemia and/or musclefatigue/cramping. Cardiomegalycan occurwith Pompe disease, but cornealcloudingis not a feature. (Choice E ) Niemann-Pick disease resultsfrom a deficiencyof sphingomyelinase , whichleads to the accumulationof sphingomyelinwithinphagocytes. This disease is characterizedby hepatosplenomegaly and progressiveneurologicdeterioration , but eye findingsincludea cherry-red spot on the macula, not cornealclouding. Educational objective : Hurler syndromeis a mucopolysaccharidosis caused by a deficiencyof alpha-L-iduronidase, which hydrolyzesdermatanand heparan sulfate. Accumulationof these substancesresultsin the characteristic , coarse facialfeatures, cornealclouding , and hepatosplenomegaly . Early featuresof intellectualdisability death due to cardiaccomplications(eg, myocardialinfarction) is expected. References • Early diseaseprogressionof Hurler syndrome. Block Time Remaining:00:02:05 TUTOR https://t.me/USMLEWorldStep1 i Suspend O EndBlock — Item 1 of 1 Question W: 21503 P' Mark <l Previous > Next r n L J Full Screen © Tutorial i Lab Values =* Notes Calculator Reverse Color CEA ) Text Zoom i§! Settings A ( Choice C ) Glycogenstoragediseasescause defectivemetabolismof glycogenin the liverand/or , growthretardation, , lacticacidosis, hepatomegaly muscles. The presentationcan includehypoglycemia and/or musclefatigue/cramping. Cardiomegalycan occurwith Pompe disease, but cornealcloudingis not a feature. ( Choice E) Niemann-Pick disease resultsfrom a deficiencyof sphingomyelinase , whichleads to the accumulationof sphingomyelinwithinphagocytes. This disease is characterizedby hepatosplenomegaly and progressiveneurologicdeterioration , but eye findingsincludea cherry-red spot on the macula, not cornealclouding. Educational objective : Hurler syndromeis a mucopolysaccharidosis caused by a deficiencyof alpha-L-iduronidase, which hydrolyzesdermatanand heparan sulfate. Accumulationof these substancesresultsin the characteristic , coarse facialfeatures, cornealclouding , and hepatosplenomegaly . Early featuresof intellectualdisability death due to cardiaccomplications(eg, myocardialinfarction) is expected. References • Early diseaseprogressionof Hurler syndrome. Block Time Remaining : 00:02: 05 TUTOR https://t.me/USMLEWorldStep1 i Suspend O EndBlock — Item 1 of 1 Question W: 21503 P' Mark <l Previous > Next r n L J Full Screen © Tutorial i Lab Values =* Notes Calculator Reverse Color CEA ) Text Zoom i§! Settings A ( Choice C ) Glycogenstoragediseasescause defectivemetabolismof glycogenin the liverand/or , growthretardation, , lacticacidosis, hepatomegaly muscles. The presentationcan includehypoglycemia and/or musclefatigue/cramping. Cardiomegalycan occurwith Pompe disease, but cornealcloudingis not a feature. ( Choice E) Niemann-Pick disease resultsfrom a deficiencyof sphingomyelinase , whichleads to the accumulationof sphingomyelinwithinphagocytes. This disease is characterizedby hepatosplenomegaly and progressiveneurologicdeterioration , but eye findingsincludea cherry-red spot on the macula, not cornealclouding. Educational objective : Hurler syndromeis a mucopolysaccharidosis caused by a deficiencyof alpha-L-iduronidase, which hydrolyzesdermatanand heparan sulfate. Accumulationof these substancesresultsin the characteristic , coarse facialfeatures, cornealclouding , and hepatosplenomegaly . Early featuresof intellectualdisability death due to cardiaccomplications(eg, myocardialinfarction) is expected. References • Early diseaseprogressionof Hurler syndrome. Block Time Remaining : 00:02: 05 TUTOR https://t.me/USMLEWorldStep1 i Suspend O EndBlock — Item1 of1 QuestionW :21503 P'Mark <l Previous > Next r n L J Full Screen © Tutorial i Lab Values =* Notes Calculator Reverse Color CEA ) Text Zoom §! i Settings A (ChoiceC ) Glycogen storage diseases cause defective metabolism of glycogen in the liver and/or muscles. The presentation can include hypoglycemia, lactic acidosis, hepatomegaly, growth retardation, and/or muscle fatigue/cramping. Cardiomegaly can occur with Pompe disease, but corneal clouding is not a feature. (Choice E ) Niemann-Pick disease results from a deficiency of sphingomyelinase, which leads to the accumulation of sphingomyelin within phagocytes. This disease is characterized by hepatosplenomegaly and progressive neurologic deterioration, but eye findings include a cherry-red spot on the macula, not corneal clouding. Educational objective : Hurler syndrome is a mucopolysaccharidosis caused by a deficiency of alpha-L-iduronidase, which hydrolyzes dermatan and heparan sulfate. Accumulation of these substances results in the characteristic features of intellectual disability, coarse facial features, corneal clouding, and hepatosplenomegaly. Early death due to cardiac complications (eg, myocardial infarction) is expected. References • Early disease progression of Hurler syndrome. Block Time Remaining:00:02:05 TUTOR https://t.me/USMLEWorldStep1 i Suspend O End Block — Item1 of1 QuestionW :21503 P'Mark <l Previous > Next r n L J Full Screen © Tutorial i Lab Values =* Notes Calculator Reverse Color CEA ) Text Zoom §! i Settings A (ChoiceC ) Glycogen storage diseases cause defective metabolism of glycogen in the liver and/or muscles. The presentation can include hypoglycemia, lactic acidosis, hepatomegaly, growth retardation, and/or muscle fatigue/cramping. Cardiomegaly can occur with Pompe disease, but corneal clouding is not a feature. (Choice E ) Niemann-Pick disease results from a deficiency of sphingomyelinase, which leads to the accumulation of sphingomyelin within phagocytes. This disease is characterized by hepatosplenomegaly and progressive neurologic deterioration, but eye findings include a cherry-red spot on the macula, not corneal clouding. Educational objective : Hurler syndrome is a mucopolysaccharidosis caused by a deficiency of alpha-L-iduronidase, which hydrolyzes dermatan and heparan sulfate. Accumulation of these substances results in the characteristic features of intellectual disability, coarse facial features, corneal clouding, and hepatosplenomegaly. Early death due to cardiac complications (eg, myocardial infarction) is expected. References • Early disease progression of Hurler syndrome. Block Time Remaining:00:02:05 TUTOR https://t.me/USMLEWorldStep1 i Suspend O End Block — Item1 of1 QuestionW :21503 P'Mark <l Previous > Next r n L J Full Screen © Tutorial i Lab Values =* Notes Calculator Reverse Color CEA ) Text Zoom §! i Settings A (ChoiceC ) Glycogen storage diseases cause defective metabolism of glycogen in the liver and/or muscles. The presentation can include hypoglycemia, lactic acidosis, hepatomegaly, growth retardation, and/or muscle fatigue/cramping. Cardiomegaly can occur with Pompe disease, but corneal clouding is not a feature. (Choice E ) Niemann-Pick disease results from a deficiency of sphingomyelinase, which leads to the accumulation of sphingomyelin within phagocytes. This disease is characterized by hepatosplenomegaly and progressive neurologic deterioration, but eye findings include a cherry-red spot on the macula, not corneal clouding. Educational objective : Hurler syndrome is a mucopolysaccharidosis caused by a deficiency of alpha-L-iduronidase, which hydrolyzes dermatan and heparan sulfate. Accumulation of these substances results in the characteristic features of intellectual disability, coarse facial features, corneal clouding, and hepatosplenomegaly. Early death due to cardiac complications (eg, myocardial infarction) is expected. References • Early disease progression of Hurler syndrome. Block Time Remaining:00:02:05 TUTOR https://t.me/USMLEWorldStep1 i Suspend O End Block — Item1 of1 QuestionW :21503 P'Mark <l Previous > Next r n L J Full Screen © Tutorial i Lab Values =* Notes Calculator Reverse Color CEA ) Text Zoom §! i Settings A (ChoiceC ) Glycogen storage diseases cause defective metabolism of glycogen in the liver and/or muscles. The presentation can include hypoglycemia, lactic acidosis, hepatomegaly, growth retardation, and/or muscle fatigue/cramping. Cardiomegaly can occur with Pompe disease, but corneal clouding is not a feature. (Choice E ) Niemann-Pick disease results from a deficiency of sphingomyelinase, which leads to the accumulation of sphingomyelin within phagocytes. This disease is characterized by hepatosplenomegaly and progressive neurologic deterioration, but eye findings include a cherry-red spot on the macula, not corneal clouding. Educational objective : Hurler syndrome is a mucopolysaccharidosis caused by a deficiency of alpha-L-iduronidase, which hydrolyzes dermatan and heparan sulfate. Accumulation of these substances results in the characteristic features of intellectual disability, coarse facial features, corneal clouding, and hepatosplenomegaly. Early death due to cardiac complications (eg, myocardial infarction) is expected. References • Early disease progression of Hurler syndrome. Block Time Remaining:00:02:05 TUTOR https://t.me/USMLEWorldStep1 i Suspend O End Block — Item 1 of 1 Question W: 21503 P' Mark <l Previous > Next rn L J Full Screen © Tutorial i Lab Values =* Notes Calculator Reverse Color CEA) Text Zoom i§! Settings A ( Choice C ) Glycogen storage diseases cause defective metabolism of glycogen in the liver and/or muscles. The presentation can include hypoglycemia, lactic acidosis, hepatomegaly, growth retardation, and/or muscle fatigue/cramping. Cardiomegaly can occur with Pompe disease, but corneal clouding is not a feature. ( Choice E) Niemann-Pick disease results from a deficiency of sphingomyelinase, which leads to the accumulation of sphingomyelin within phagocytes. This disease is characterized by hepatosplenomegaly and progressive neurologic deterioration, but eye findings include a cherry-red spot on the macula, not corneal clouding. Educational objective: Hurler syndrome is a mucopolysaccharidosis caused by a deficiency of alpha-L-iduronidase, which hydrolyzes dermatan and heparan sulfate. Accumulation of these substances results in the characteristic features of intellectual disability, coarse facial features, corneal clouding, and hepatosplenomegaly. Early death due to cardiac complications (eg, myocardial infarction) is expected. References • Early disease progression of Hurler syndrome. Block Time Remaining: 00:02:05 TUTOR https://t.me/USMLEWorldStep1 i Suspend O End Block — Item 1 of 1 Question W: 21503 P' Mark <l Previous > Next rn L J Full Screen © Tutorial i Lab Values =* Notes Calculator Reverse Color CEA) Text Zoom i§! Settings A ( Choice C ) Glycogen storage diseases cause defective metabolism of glycogen in the liver and/or muscles. The presentation can include hypoglycemia, lactic acidosis, hepatomegaly, growth retardation, and/or muscle fatigue/cramping. Cardiomegaly can occur with Pompe disease, but corneal clouding is not a feature. ( Choice E) Niemann-Pick disease results from a deficiency of sphingomyelinase, which leads to the accumulation of sphingomyelin within phagocytes. This disease is characterized by hepatosplenomegaly and progressive neurologic deterioration, but eye findings include a cherry-red spot on the macula, not corneal clouding. Educational objective: Hurler syndrome is a mucopolysaccharidosis caused by a deficiency of alpha-L-iduronidase, which hydrolyzes dermatan and heparan sulfate. Accumulation of these substances results in the characteristic features of intellectual disability, coarse facial features, corneal clouding, and hepatosplenomegaly. Early death due to cardiac complications (eg, myocardial infarction) is expected. References • Early disease progression of Hurler syndrome. Block Time Remaining: 00:02:05 TUTOR https://t.me/USMLEWorldStep1 i Suspend O End Block — Item 1 of 1 Question W: 21503 P' Mark <l Previous > Next rn L J Full Screen © Tutorial i Lab Values =* Notes Calculator Reverse Color CEA) Text Zoom i§! Settings A ( Choice C ) Glycogen storage diseases cause defective metabolism of glycogen in the liver and/or muscles. The presentation can include hypoglycemia, lactic acidosis, hepatomegaly, growth retardation, and/or muscle fatigue/cramping. Cardiomegaly can occur with Pompe disease, but corneal clouding is not a feature. ( Choice E) Niemann-Pick disease results from a deficiency of sphingomyelinase, which leads to the accumulation of sphingomyelin within phagocytes. This disease is characterized by hepatosplenomegaly and progressive neurologic deterioration, but eye findings include a cherry-red spot on the macula, not corneal clouding. Educational objective: Hurler syndrome is a mucopolysaccharidosis caused by a deficiency of alpha-L-iduronidase, which hydrolyzes dermatan and heparan sulfate. Accumulation of these substances results in the characteristic features of intellectual disability, coarse facial features, corneal clouding, and hepatosplenomegaly. Early death due to cardiac complications (eg, myocardial infarction) is expected. References • Early disease progression of Hurler syndrome. Block Time Remaining: 00:02:05 TUTOR https://t.me/USMLEWorldStep1 i Suspend O End Block — Item 1 of 1 Question W: 21503 P' Mark <l Previous > Next rn L J Full Screen © Tutorial i Lab Values =* Notes Calculator Reverse Color CEA) Text Zoom i§! Settings A ( Choice C ) Glycogen storage diseases cause defective metabolism of glycogen in the liver and/or muscles. The presentation can include hypoglycemia, lactic acidosis, hepatomegaly, growth retardation, and/or muscle fatigue/cramping. Cardiomegaly can occur with Pompe disease, but corneal clouding is not a feature. ( Choice E) Niemann-Pick disease results from a deficiency of sphingomyelinase, which leads to the accumulation of sphingomyelin within phagocytes. This disease is characterized by hepatosplenomegaly and progressive neurologic deterioration, but eye findings include a cherry-red spot on the macula, not corneal clouding. Educational objective: Hurler syndrome is a mucopolysaccharidosis caused by a deficiency of alpha-L-iduronidase, which hydrolyzes dermatan and heparan sulfate. Accumulation of these substances results in the characteristic features of intellectual disability, coarse facial features, corneal clouding, and hepatosplenomegaly. Early death due to cardiac complications (eg, myocardial infarction) is expected. References • Early disease progression of Hurler syndrome. Block Time Remaining: 00:02:05 TUTOR https://t.me/USMLEWorldStep1 i Suspend O End Block — Item1 of1 QuestionW :21503 P'Mark <l Previous > Next r n L J Full Screen © Tutorial i Lab Values =* Notes Calculator Reverse Color CEA ) Text Zoom §! i Settings A (ChoiceC ) Glycogen storage diseases cause defective metabolism of glycogen in the liver and/or muscles. The presentation can include hypoglycemia, lactic acidosis, hepatomegaly, growth retardation, and/or muscle fatigue/cramping. Cardiomegaly can occur with Pompe disease, but corneal clouding is not a feature. (Choice E ) Niemann-Pick disease results from a deficiency of sphingomyelinase, which leads to the accumulation of sphingomyelin within phagocytes. This disease is characterized by hepatosplenomegaly and progressive neurologic deterioration, but eye findings include a cherry-red spot on the macula, not corneal clouding. Educational objective : Hurler syndrome is a mucopolysaccharidosis caused by a deficiency of alpha-L-iduronidase, which hydrolyzes dermatan and heparan sulfate. Accumulation of these substances results in the characteristic features of intellectual disability, coarse facial features, corneal clouding, and hepatosplenomegaly. Early death due to cardiac complications (eg, myocardial infarction) is expected. References • Early disease progression of Hurler syndrome. Block Time Remaining:00:02:05 TUTOR https://t.me/USMLEWorldStep1 i Suspend O End Block — Item 1 of 1 Question W: 21503 P' Mark <l Previous > Next rn L J Full Screen © Tutorial i Lab Values =* Notes Calculator Reverse Color CEA) Text Zoom i§! Settings A ( Choice C ) Glycogen storage diseases cause defective metabolism of glycogen in the liver and/or muscles. The presentation can include hypoglycemia, lactic acidosis, hepatomegaly, growth retardation, and/or muscle fatigue/cramping. Cardiomegaly can occur with Pompe disease, but corneal clouding is not a feature. ( Choice E) Niemann-Pick disease results from a deficiency of sphingomyelinase, which leads to the accumulation of sphingomyelin within phagocytes. This disease is characterized by hepatosplenomegaly and progressive neurologic deterioration, but eye findings include a cherry-red spot on the macula, not corneal clouding. Educational objective: Hurler syndrome is a mucopolysaccharidosis caused by a deficiency of alpha-L-iduronidase, which hydrolyzes dermatan and heparan sulfate. Accumulation of these substances results in the characteristic features of intellectual disability, coarse facial features, corneal clouding, and hepatosplenomegaly. Early death due to cardiac complications (eg, myocardial infarction) is expected. References • Early disease progression of Hurler syndrome. Block Time Remaining: 00:02:05 TUTOR https://t.me/USMLEWorldStep1 i Suspend O End Block — Item 1 of 1 Question W: 21503 P ' Mark <l Previous > Next r n L J Full Screen © Tutorial i Lab Values =* Notes Calculator Reverse Color CEA ) Text Zoom i§! Settings A ( Choice C ) Glycogenstoragediseasescause defectivemetabolismof glycogenin the liverand/or , growthretardation, , lacticacidosis, hepatomegaly muscles. The presentationcan includehypoglycemia and/or musclefatigue/cramping. Cardiomegalycan occurwith Pompe disease, but cornealcloudingis not a feature. ( Choice E ) Niemann-Pick disease resultsfrom a deficiencyof sphingomyelinase , whichleads to the accumulationof sphingomyelinwithinphagocytes. This disease is characterizedby hepatosplenomegaly and progressiveneurologicdeterioration , but eye findingsincludea cherry-red spot on the macula, not cornealclouding. Educational objective : Hurler syndromeis a mucopolysaccharidosis caused by a deficiencyof alpha-L-iduronidase, which hydrolyzesdermatanand heparan sulfate. Accumulationof these substancesresultsin the characteristic , coarse facialfeatures, cornealclouding , and hepatosplenomegaly . Early featuresof intellectualdisability death due to cardiaccomplications(eg, myocardialinfarction) is expected. References • Early diseaseprogressionof Hurler syndrome. Block Time Remaining : 00 :02 : 05 TUTOR https://t.me/USMLEWorldStep1 i Suspend O EndBlock — Item1 of1 QuestionW :21503 P'Mark <l Previous > Next r n L J Full Screen © Tutorial i Lab Values =* Notes Calculator Reverse Color CEA ) Text Zoom §! i Settings A (ChoiceC ) Glycogenstoragediseasescause defectivemetabolismof glycogenin the liverand/or , growthretardation, , lacticacidosis, hepatomegaly muscles. The presentationcan includehypoglycemia and/or musclefatigue/cramping. Cardiomegalycan occurwith Pompe disease, but cornealcloudingis not a feature. (Choice E ) Niemann-Pick disease resultsfrom a deficiencyof sphingomyelinase , whichleads to the accumulationof sphingomyelinwithinphagocytes. This disease is characterizedby hepatosplenomegaly and progressiveneurologicdeterioration , but eye findingsincludea cherry-red spot on the macula, not cornealclouding. Educational objective : Hurler syndromeis a mucopolysaccharidosis caused by a deficiencyof alpha-L-iduronidase, which hydrolyzesdermatanand heparan sulfate. Accumulationof these substancesresultsin the characteristic , coarse facialfeatures, cornealclouding , and hepatosplenomegaly . Early featuresof intellectualdisability death due to cardiaccomplications(eg, myocardialinfarction) is expected. References • Early diseaseprogressionof Hurler syndrome. Block Time Remaining:00:02:05 TUTOR https://t.me/USMLEWorldStep1 i Suspend O EndBlock — Item 1 of 1 Question W: 21503 P' Mark <l Previous > Next r n L J Full Screen © Tutorial i Lab Values =* Notes Calculator Reverse Color CEA ) Text Zoom i§! Settings A ( Choice C ) Glycogenstoragediseasescause defectivemetabolismof glycogenin the liverand/or , growthretardation, , lacticacidosis, hepatomegaly muscles. The presentationcan includehypoglycemia and/or musclefatigue/cramping. Cardiomegalycan occurwith Pompe disease, but cornealcloudingis not a feature. ( Choice E) Niemann-Pick disease resultsfrom a deficiencyof sphingomyelinase , whichleads to the accumulationof sphingomyelinwithinphagocytes. This disease is characterizedby hepatosplenomegaly and progressiveneurologicdeterioration , but eye findingsincludea cherry-red spot on the macula, not cornealclouding. Educational objective : Hurler syndromeis a mucopolysaccharidosis caused by a deficiencyof alpha-L-iduronidase, which hydrolyzesdermatanand heparan sulfate. Accumulationof these substancesresultsin the characteristic , coarse facialfeatures, cornealclouding , and hepatosplenomegaly . Early featuresof intellectualdisability death due to cardiaccomplications(eg, myocardialinfarction) is expected. References • Early diseaseprogressionof Hurler syndrome. Block Time Remaining : 00:02: 05 TUTOR https://t.me/USMLEWorldStep1 i Suspend O EndBlock — Item 1 of 1 Question W: 21503 P' Mark <l Previous > Next rn L J Full Screen © Tutorial i Lab Values =* Notes Calculator Reverse Color CEA) Text Zoom i§! Settings A ( Choice C ) Glycogen storage diseases cause defective metabolism of glycogen in the liver and/or muscles. The presentation can include hypoglycemia, lactic acidosis, hepatomegaly, growth retardation, and/or muscle fatigue/cramping. Cardiomegaly can occur with Pompe disease, but corneal clouding is not a feature. ( Choice E) Niemann-Pick disease results from a deficiency of sphingomyelinase, which leads to the accumulation of sphingomyelin within phagocytes. This disease is characterized by hepatosplenomegaly and progressive neurologic deterioration, but eye findings include a cherry-red spot on the macula, not corneal clouding. Educational objective: Hurler syndrome is a mucopolysaccharidosis caused by a deficiency of alpha-L-iduronidase, which hydrolyzes dermatan and heparan sulfate. Accumulation of these substances results in the characteristic features of intellectual disability, coarse facial features, corneal clouding, and hepatosplenomegaly. Early death due to cardiac complications (eg, myocardial infarction) is expected. References • Early disease progression of Hurler syndrome. Block Time Remaining: 00:02:05 TUTOR https://t.me/USMLEWorldStep1 i Suspend O End Block — Item1 of1 QuestionW :21503 P'Mark <l Previous > Next r n L J Full Screen © Tutorial i Lab Values =* Notes Calculator Reverse Color CEA ) Text Zoom §! i Settings A (ChoiceC ) Glycogen storage diseases cause defective metabolism of glycogen in the liver and/or muscles. The presentation can include hypoglycemia, lactic acidosis, hepatomegaly, growth retardation, and/or muscle fatigue/cramping. Cardiomegaly can occur with Pompe disease, but corneal clouding is not a feature. (Choice E ) Niemann-Pick disease results from a deficiency of sphingomyelinase, which leads to the accumulation of sphingomyelin within phagocytes. This disease is characterized by hepatosplenomegaly and progressive neurologic deterioration, but eye findings include a cherry-red spot on the macula, not corneal clouding. Educational objective : Hurler syndrome is a mucopolysaccharidosis caused by a deficiency of alpha-L-iduronidase, which hydrolyzes dermatan and heparan sulfate. Accumulation of these substances results in the characteristic features of intellectual disability, coarse facial features, corneal clouding, and hepatosplenomegaly. Early death due to cardiac complications (eg, myocardial infarction) is expected. References • Early disease progression of Hurler syndrome. Block Time Remaining:00:02:05 TUTOR https://t.me/USMLEWorldStep1 i Suspend O End Block — Item 1 of 1 Question W: 21503 P' Mark <l Previous > Next rn L J Full Screen © Tutorial i Lab Values =* Notes Calculator Reverse Color CEA) Text Zoom i§! Settings A ( Choice C ) Glycogen storage diseases cause defective metabolism of glycogen in the liver and/or muscles. The presentation can include hypoglycemia, lactic acidosis, hepatomegaly, growth retardation, and/or muscle fatigue/cramping. Cardiomegaly can occur with Pompe disease, but corneal clouding is not a feature. ( Choice E) Niemann-Pick disease results from a deficiency of sphingomyelinase, which leads to the accumulation of sphingomyelin within phagocytes. This disease is characterized by hepatosplenomegaly and progressive neurologic deterioration, but eye findings include a cherry-red spot on the macula, not corneal clouding. Educational objective: Hurler syndrome is a mucopolysaccharidosis caused by a deficiency of alpha-L-iduronidase, which hydrolyzes dermatan and heparan sulfate. Accumulation of these substances results in the characteristic features of intellectual disability, coarse facial features, corneal clouding, and hepatosplenomegaly. Early death due to cardiac complications (eg, myocardial infarction) is expected. References • Early disease progression of Hurler syndrome. Block Time Remaining: 00:02:05 TUTOR https://t.me/USMLEWorldStep1 i Suspend O End Block — Item 1 of 1 Question W: 21503 P' Mark <l Previous > Next rn L J Full Screen © Tutorial i Lab Values =* Notes Calculator Reverse Color CEA) Text Zoom i§! Settings A ( Choice C ) Glycogen storage diseases cause defective metabolism of glycogen in the liver and/or muscles. The presentation can include hypoglycemia, lactic acidosis, hepatomegaly, growth retardation, and/or muscle fatigue/cramping. Cardiomegaly can occur with Pompe disease, but corneal clouding is not a feature. ( Choice E) Niemann-Pick disease results from a deficiency of sphingomyelinase, which leads to the accumulation of sphingomyelin within phagocytes. This disease is characterized by hepatosplenomegaly and progressive neurologic deterioration, but eye findings include a cherry-red spot on the macula, not corneal clouding. Educational objective: Hurler syndrome is a mucopolysaccharidosis caused by a deficiency of alpha-L-iduronidase, which hydrolyzes dermatan and heparan sulfate. Accumulation of these substances results in the characteristic features of intellectual disability, coarse facial features, corneal clouding, and hepatosplenomegaly. Early death due to cardiac complications (eg, myocardial infarction) is expected. References • Early disease progression of Hurler syndrome. Block Time Remaining: 00:02:05 TUTOR https://t.me/USMLEWorldStep1 i Suspend O End Block — Item1 of1 QuestionW :21503 P'Mark <l Previous > Next r n L J Full Screen © Tutorial i Lab Values =* Notes Calculator Reverse Color CEA ) Text Zoom §! i Settings A (ChoiceC ) Glycogen storage diseases cause defective metabolism of glycogen in the liver and/or muscles. The presentation can include hypoglycemia, lactic acidosis, hepatomegaly, growth retardation, and/or muscle fatigue/cramping. Cardiomegaly can occur with Pompe disease, but corneal clouding is not a feature. (Choice E ) Niemann-Pick disease results from a deficiency of sphingomyelinase, which leads to the accumulation of sphingomyelin within phagocytes. This disease is characterized by hepatosplenomegaly and progressive neurologic deterioration, but eye findings include a cherry-red spot on the macula, not corneal clouding. Educational objective : Hurler syndrome is a mucopolysaccharidosis caused by a deficiency of alpha-L-iduronidase, which hydrolyzes dermatan and heparan sulfate. Accumulation of these substances results in the characteristic features of intellectual disability, coarse facial features, corneal clouding, and hepatosplenomegaly. Early death due to cardiac complications (eg, myocardial infarction) is expected. References • Early disease progression of Hurler syndrome. Block Time Remaining:00:02:05 TUTOR https://t.me/USMLEWorldStep1 i Suspend O End Block — Item1 of1 QuestionW :21503 P'Mark <l Previous > Next r n L J Full Screen © Tutorial i Lab Values =* Notes Calculator Reverse Color CEA ) Text Zoom §! i Settings A (ChoiceC ) Glycogenstoragediseasescause defectivemetabolismof glycogenin the liverand/or , growthretardation, , lacticacidosis, hepatomegaly muscles. The presentationcan includehypoglycemia and/or musclefatigue/cramping. Cardiomegalycan occurwith Pompe disease, but cornealcloudingis not a feature. (Choice E ) Niemann-Pick disease resultsfrom a deficiencyof sphingomyelinase , whichleads to the accumulationof sphingomyelinwithinphagocytes. This disease is characterizedby hepatosplenomegaly and progressiveneurologicdeterioration , but eye findingsincludea cherry-red spot on the macula, not cornealclouding. Educational objective : Hurler syndromeis a mucopolysaccharidosis caused by a deficiencyof alpha-L-iduronidase, which hydrolyzesdermatanand heparan sulfate. Accumulationof these substancesresultsin the characteristic , coarse facialfeatures, cornealclouding , and hepatosplenomegaly . Early featuresof intellectualdisability death due to cardiaccomplications(eg, myocardialinfarction) is expected. References • Early diseaseprogressionof Hurler syndrome. Block Time Remaining:00:02:05 TUTOR https://t.me/USMLEWorldStep1 i Suspend O EndBlock — Item1 of1 QuestionW :21503 P'Mark <l Previous > Next r n L J Full Screen © Tutorial i Lab Values =* Notes Calculator Reverse Color CEA ) Text Zoom §! i Settings A (ChoiceC ) Glycogenstoragediseasescause defectivemetabolismof glycogenin the liverand/or , growthretardation, , lacticacidosis, hepatomegaly muscles. The presentationcan includehypoglycemia and/or musclefatigue/cramping. Cardiomegalycan occurwith Pompe disease, but cornealcloudingis not a feature. (Choice E ) Niemann-Pick disease resultsfrom a deficiencyof sphingomyelinase , whichleads to the accumulationof sphingomyelinwithinphagocytes. This disease is characterizedby hepatosplenomegaly and progressiveneurologicdeterioration , but eye findingsincludea cherry-red spot on the macula, not cornealclouding. Educational objective : Hurler syndromeis a mucopolysaccharidosis caused by a deficiencyof alpha-L-iduronidase, which hydrolyzesdermatanand heparan sulfate. Accumulationof these substancesresultsin the characteristic , coarse facialfeatures, cornealclouding , and hepatosplenomegaly . Early featuresof intellectualdisability death due to cardiaccomplications(eg, myocardialinfarction) is expected. References • Early diseaseprogressionof Hurler syndrome. Block Time Remaining:00:02:05 TUTOR https://t.me/USMLEWorldStep1 i Suspend O EndBlock — Item 1 of 1 Question W: 21503 P' Mark <l Previous > Next rn L J Full Screen © Tutorial i Lab Values =* Notes Calculator Reverse Color CEA) Text Zoom i§! Settings A ( Choice C ) Glycogen storage diseases cause defective metabolism of glycogen in the liver and/or muscles. The presentation can include hypoglycemia, lactic acidosis, hepatomegaly, growth retardation, and/or muscle fatigue/cramping. Cardiomegaly can occur with Pompe disease, but corneal clouding is not a feature. ( Choice E) Niemann-Pick disease results from a deficiency of sphingomyelinase, which leads to the accumulation of sphingomyelin within phagocytes. This disease is characterized by hepatosplenomegaly and progressive neurologic deterioration, but eye findings include a cherry-red spot on the macula, not corneal clouding. Educational objective: Hurler syndrome is a mucopolysaccharidosis caused by a deficiency of alpha-L-iduronidase, which hydrolyzes dermatan and heparan sulfate. Accumulation of these substances results in the characteristic features of intellectual disability, coarse facial features, corneal clouding, and hepatosplenomegaly. Early death due to cardiac complications (eg, myocardial infarction) is expected. References • Early disease progression of Hurler syndrome. Block Time Remaining: 00:02:05 TUTOR https://t.me/USMLEWorldStep1 i Suspend O End Block — Item 1 of 1 Question W: 21503 P' Mark <l Previous > Next r n L J Full Screen © Tutorial i Lab Values =* Notes Calculator Reverse Color CEA ) Text Zoom i§! Settings A ( Choice C ) Glycogenstoragediseasescause defectivemetabolismof glycogenin the liverand/or , growthretardation, , lacticacidosis, hepatomegaly muscles. The presentationcan includehypoglycemia and/or musclefatigue/cramping. Cardiomegalycan occurwith Pompe disease, but cornealcloudingis not a feature. ( Choice E) Niemann-Pick disease resultsfrom a deficiencyof sphingomyelinase , whichleads to the accumulationof sphingomyelinwithinphagocytes. This disease is characterizedby hepatosplenomegaly and progressiveneurologicdeterioration , but eye findingsincludea cherry-red spot on the macula, not cornealclouding. Educational objective : Hurler syndromeis a mucopolysaccharidosis caused by a deficiencyof alpha-L-iduronidase, which hydrolyzesdermatanand heparan sulfate. Accumulationof these substancesresultsin the characteristic , coarse facialfeatures, cornealclouding , and hepatosplenomegaly . Early featuresof intellectualdisability death due to cardiaccomplications(eg, myocardialinfarction) is expected. References • Early diseaseprogressionof Hurler syndrome. Block Time Remaining : 00:02: 05 TUTOR https://t.me/USMLEWorldStep1 i Suspend O EndBlock — Item1 of1 QuestionW :21503 P'Mark <l Previous > Next r n L J Full Screen © Tutorial i Lab Values =* Notes Calculator Reverse Color CEA ) Text Zoom §! i Settings A (ChoiceC ) Glycogenstoragediseasescause defectivemetabolismof glycogenin the liverand/or , growthretardation, , lacticacidosis, hepatomegaly muscles. The presentationcan includehypoglycemia and/or musclefatigue/cramping. Cardiomegalycan occurwith Pompe disease, but cornealcloudingis not a feature. (Choice E ) Niemann-Pick disease resultsfrom a deficiencyof sphingomyelinase , whichleads to the accumulationof sphingomyelinwithinphagocytes. This disease is characterizedby hepatosplenomegaly and progressiveneurologicdeterioration , but eye findingsincludea cherry-red spot on the macula, not cornealclouding. Educational objective : Hurler syndromeis a mucopolysaccharidosis caused by a deficiencyof alpha-L-iduronidase, which hydrolyzesdermatanand heparan sulfate. Accumulationof these substancesresultsin the characteristic , coarse facialfeatures, cornealclouding , and hepatosplenomegaly . Early featuresof intellectualdisability death due to cardiaccomplications(eg, myocardialinfarction) is expected. References • Early diseaseprogressionof Hurler syndrome. Block Time Remaining:00:02:05 TUTOR https://t.me/USMLEWorldStep1 i Suspend O EndBlock — Item 1 of 1 Question W: 21503 P' Mark <l Previous > Next rn L J Full Screen © Tutorial i Lab Values =* Notes Calculator Reverse Color CEA) Text Zoom i§! Settings A ( Choice C ) Glycogen storage diseases cause defective metabolism of glycogen in the liver and/or muscles. The presentation can include hypoglycemia, lactic acidosis, hepatomegaly, growth retardation, and/or muscle fatigue/cramping. Cardiomegaly can occur with Pompe disease, but corneal clouding is not a feature. ( Choice E) Niemann-Pick disease results from a deficiency of sphingomyelinase, which leads to the accumulation of sphingomyelin within phagocytes. This disease is characterized by hepatosplenomegaly and progressive neurologic deterioration, but eye findings include a cherry-red spot on the macula, not corneal clouding. Educational objective: Hurler syndrome is a mucopolysaccharidosis caused by a deficiency of alpha-L-iduronidase, which hydrolyzes dermatan and heparan sulfate. Accumulation of these substances results in the characteristic features of intellectual disability, coarse facial features, corneal clouding, and hepatosplenomegaly. Early death due to cardiac complications (eg, myocardial infarction) is expected. References • Early disease progression of Hurler syndrome. Block Time Remaining: 00:02:05 TUTOR https://t.me/USMLEWorldStep1 i Suspend O End Block — Item 1 of 1 Question W: 21503 P' Mark <l Previous > Next rn L J Full Screen © Tutorial i Lab Values =* Notes Calculator Reverse Color CEA) Text Zoom i§! Settings A ( Choice C ) Glycogen storage diseases cause defective metabolism of glycogen in the liver and/or muscles. The presentation can include hypoglycemia, lactic acidosis, hepatomegaly, growth retardation, and/or muscle fatigue/cramping. Cardiomegaly can occur with Pompe disease, but corneal clouding is not a feature. ( Choice E) Niemann-Pick disease results from a deficiency of sphingomyelinase, which leads to the accumulation of sphingomyelin within phagocytes. This disease is characterized by hepatosplenomegaly and progressive neurologic deterioration, but eye findings include a cherry-red spot on the macula, not corneal clouding. Educational objective: Hurler syndrome is a mucopolysaccharidosis caused by a deficiency of alpha-L-iduronidase, which hydrolyzes dermatan and heparan sulfate. Accumulation of these substances results in the characteristic features of intellectual disability, coarse facial features, corneal clouding, and hepatosplenomegaly. Early death due to cardiac complications (eg, myocardial infarction) is expected. References • Early disease progression of Hurler syndrome. Block Time Remaining: 00:02:05 TUTOR https://t.me/USMLEWorldStep1 i Suspend O End Block — Item 1 of 1 Question W: 21503 P' Mark <l Previous > Next rn L J Full Screen © Tutorial i Lab Values =* Notes Calculator Reverse Color CEA) Text Zoom i§! Settings A ( Choice C ) Glycogen storage diseases cause defective metabolism of glycogen in the liver and/or muscles. The presentation can include hypoglycemia, lactic acidosis, hepatomegaly, growth retardation, and/or muscle fatigue/cramping. Cardiomegaly can occur with Pompe disease, but corneal clouding is not a feature. ( Choice E) Niemann-Pick disease results from a deficiency of sphingomyelinase, which leads to the accumulation of sphingomyelin within phagocytes. This disease is characterized by hepatosplenomegaly and progressive neurologic deterioration, but eye findings include a cherry-red spot on the macula, not corneal clouding. Educational objective: Hurler syndrome is a mucopolysaccharidosis caused by a deficiency of alpha-L-iduronidase, which hydrolyzes dermatan and heparan sulfate. Accumulation of these substances results in the characteristic features of intellectual disability, coarse facial features, corneal clouding, and hepatosplenomegaly. Early death due to cardiac complications (eg, myocardial infarction) is expected. References • Early disease progression of Hurler syndrome. Block Time Remaining: 00:02:05 TUTOR https://t.me/USMLEWorldStep1 i Suspend O End Block — Item 1 of 1 Question W: 21503 P' Mark <l Previous > Next r n L J Full Screen © Tutorial i Lab Values =* Notes Calculator Reverse Color CEA) Text Zoom i§! Settings A ( Choice C ) Glycogenstoragediseasescause defectivemetabolismof glycogenin the liverand/or , growthretardation, , lacticacidosis, hepatomegaly muscles. The presentationcan includehypoglycemia and/or musclefatigue/cramping. Cardiomegalycan occurwith Pompe disease, but cornealcloudingis not a feature. ( Choice E) Niemann-Pick disease resultsfrom a deficiencyof sphingomyelinase , whichleads to the accumulationof sphingomyelinwithinphagocytes. This disease is characterizedby hepatosplenomegaly and progressiveneurologicdeterioration , but eye findingsincludea cherry-red spot on the macula, not cornealclouding. Educational objective: Hurler syndromeis a mucopolysaccharidosis caused by a deficiencyof alpha-L-iduronidase, which hydrolyzesdermatanand heparan sulfate. Accumulationof these substancesresultsin the characteristic , coarse facialfeatures, cornealclouding , and hepatosplenomegaly . Early featuresof intellectualdisability death due to cardiaccomplications(eg, myocardialinfarction) is expected. References • Early diseaseprogressionof Hurler syndrome. Block Time Remaining: 00:02:05 TUTOR https://t.me/USMLEWorldStep1 i Suspend O EndBlock — Item 1 of 1 Question W: 21503 P' Mark <l Previous > Next rn L J Full Screen © Tutorial i Lab Values =* Notes Calculator Reverse Color CEA) Text Zoom i§! Settings A ( Choice C ) Glycogen storage diseases cause defective metabolism of glycogen in the liver and/or muscles. The presentation can include hypoglycemia, lactic acidosis, hepatomegaly, growth retardation, and/or muscle fatigue/cramping. Cardiomegaly can occur with Pompe disease, but corneal clouding is not a feature. ( Choice E) Niemann-Pick disease results from a deficiency of sphingomyelinase, which leads to the accumulation of sphingomyelin within phagocytes. This disease is characterized by hepatosplenomegaly and progressive neurologic deterioration, but eye findings include a cherry-red spot on the macula, not corneal clouding. Educational objective: Hurler syndrome is a mucopolysaccharidosis caused by a deficiency of alpha-L-iduronidase, which hydrolyzes dermatan and heparan sulfate. Accumulation of these substances results in the characteristic features of intellectual disability, coarse facial features, corneal clouding, and hepatosplenomegaly. Early death due to cardiac complications (eg, myocardial infarction) is expected. References • Early disease progression of Hurler syndrome. Block Time Remaining: 00:02:05 TUTOR https://t.me/USMLEWorldStep1 i Suspend O End Block — Item 1 of 1 Question W: 21503 P' Mark <l Previous > Next rn L J Full Screen © Tutorial i Lab Values =* Notes Calculator Reverse Color CEA ) Text Zoom i§! Settings A ( Choice C ) Glycogenstoragediseasescause defectivemetabolismof glycogenin the liverand/or , growthretardation, , lacticacidosis, hepatomegaly muscles. The presentationcan includehypoglycemia and/or musclefatigue/cramping. Cardiomegalycan occurwith Pompe disease, but cornealcloudingis not a feature. ( Choice E) Niemann-Pick disease resultsfrom a deficiencyof sphingomyelinase , whichleads to the accumulationof sphingomyelinwithinphagocytes. This disease is characterizedby hepatosplenomegaly and progressiveneurologicdeterioration , but eye findingsincludea cherry-red spot on the macula, not cornealclouding. Educational objective : Hurler syndromeis a mucopolysaccharidosis caused by a deficiencyof alpha-L-iduronidase, which hydrolyzesdermatanand heparan sulfate. Accumulationof these substancesresultsin the characteristic , coarse facialfeatures, cornealclouding , and hepatosplenomegaly . Early featuresof intellectualdisability death due to cardiaccomplications(eg, myocardialinfarction) is expected. References • Early diseaseprogressionof Hurler syndrome. Block Time Remaining : 00:02: 05 TUTOR https://t.me/USMLEWorldStep1 i Suspend O EndBlock — Item 1 of 1 Question W: 21503 P' Mark <l Previous > Next rn L J Full Screen © Tutorial i Lab Values =* Notes Calculator Reverse Color CEA) Text Zoom i§! Settings A ( Choice C ) Glycogen storage diseases cause defective metabolism of glycogen in the liver and/or muscles. The presentation can include hypoglycemia, lactic acidosis, hepatomegaly, growth retardation, and/or muscle fatigue/cramping. Cardiomegaly can occur with Pompe disease, but corneal clouding is not a feature. ( Choice E) Niemann-Pick disease results from a deficiency of sphingomyelinase, which leads to the accumulation of sphingomyelin within phagocytes. This disease is characterized by hepatosplenomegaly and progressive neurologic deterioration, but eye findings include a cherry-red spot on the macula, not corneal clouding. Educational objective: Hurler syndrome is a mucopolysaccharidosis caused by a deficiency of alpha-L-iduronidase, which hydrolyzes dermatan and heparan sulfate. Accumulation of these substances results in the characteristic features of intellectual disability, coarse facial features, corneal clouding, and hepatosplenomegaly. Early death due to cardiac complications (eg, myocardial infarction) is expected. References • Early disease progression of Hurler syndrome. Block Time Remaining: 00:02:05 TUTOR https://t.me/USMLEWorldStep1 i Suspend O End Block — Item1 of1 QuestionW :21503 P'Mark <l Previous > Next r n L J Full Screen © Tutorial i Lab Values =* Notes Calculator Reverse Color CEA ) Text Zoom §! i Settings A (ChoiceC ) Glycogen storage diseases cause defective metabolism of glycogen in the liver and/or muscles. The presentation can include hypoglycemia, lactic acidosis, hepatomegaly, growth retardation, and/or muscle fatigue/cramping. Cardiomegaly can occur with Pompe disease, but corneal clouding is not a feature. (Choice E ) Niemann-Pick disease results from a deficiency of sphingomyelinase, which leads to the accumulation of sphingomyelin within phagocytes. This disease is characterized by hepatosplenomegaly and progressive neurologic deterioration, but eye findings include a cherry-red spot on the macula, not corneal clouding. Educational objective : Hurler syndrome is a mucopolysaccharidosis caused by a deficiency of alpha-L-iduronidase, which hydrolyzes dermatan and heparan sulfate. Accumulation of these substances results in the characteristic features of intellectual disability, coarse facial features, corneal clouding, and hepatosplenomegaly. Early death due to cardiac complications (eg, myocardial infarction) is expected. References • Early disease progression of Hurler syndrome. Block Time Remaining:00:02:05 TUTOR https://t.me/USMLEWorldStep1 i Suspend O End Block — Item1 of1 QuestionW :21503 P'Mark <l Previous > Next r n L J Full Screen © Tutorial i Lab Values =* Notes Calculator Reverse Color CEA ) Text Zoom §! i Settings A (ChoiceC ) Glycogen storage diseases cause defective metabolism of glycogen in the liver and/or muscles. The presentation can include hypoglycemia, lactic acidosis, hepatomegaly, growth retardation, and/or muscle fatigue/cramping. Cardiomegaly can occur with Pompe disease, but corneal clouding is not a feature. (Choice E ) Niemann-Pick disease results from a deficiency of sphingomyelinase, which leads to the accumulation of sphingomyelin within phagocytes. This disease is characterized by hepatosplenomegaly and progressive neurologic deterioration, but eye findings include a cherry-red spot on the macula, not corneal clouding. Educational objective : Hurler syndrome is a mucopolysaccharidosis caused by a deficiency of alpha-L-iduronidase, which hydrolyzes dermatan and heparan sulfate. Accumulation of these substances results in the characteristic features of intellectual disability, coarse facial features, corneal clouding, and hepatosplenomegaly. Early death due to cardiac complications (eg, myocardial infarction) is expected. References • Early disease progression of Hurler syndrome. Block Time Remaining:00:02:05 TUTOR https://t.me/USMLEWorldStep1 i Suspend O End Block — Item 1 of 1 Question W: 21503 P' Mark <l Previous > Next rn L J Full Screen © Tutorial i Lab Values =* Notes Calculator Reverse Color CEA ) Text Zoom i§! Settings A ( Choice C ) Glycogenstoragediseasescause defectivemetabolismof glycogenin the liverand/or , growthretardation, , lacticacidosis, hepatomegaly muscles. The presentationcan includehypoglycemia and/or musclefatigue/cramping. Cardiomegalycan occurwith Pompe disease, but cornealcloudingis not a feature. ( Choice E) Niemann-Pick disease resultsfrom a deficiencyof sphingomyelinase , whichleads to the accumulationof sphingomyelinwithinphagocytes. This disease is characterizedby hepatosplenomegaly and progressiveneurologicdeterioration , but eye findingsincludea cherry-red spot on the macula, not cornealclouding. Educational objective : Hurler syndromeis a mucopolysaccharidosis caused by a deficiencyof alpha-L-iduronidase, which hydrolyzesdermatanand heparan sulfate. Accumulationof these substancesresultsin the characteristic , coarse facialfeatures, cornealclouding , and hepatosplenomegaly . Early featuresof intellectualdisability death due to cardiaccomplications(eg, myocardialinfarction) is expected. References • Early diseaseprogressionof Hurler syndrome. Block Time Remaining : 00:02: 05 TUTOR https://t.me/USMLEWorldStep1 i Suspend O EndBlock — Item1 of1 QuestionW :21503 P'Mark <l Previous > Next r n L J Full Screen © Tutorial i Lab Values =* Notes Calculator Reverse Color CEA ) Text Zoom §! i Settings A (ChoiceC ) Glycogen storage diseases cause defective metabolism of glycogen in the liver and/or muscles. The presentation can include hypoglycemia, lactic acidosis, hepatomegaly, growth retardation, and/or muscle fatigue/cramping. Cardiomegaly can occur with Pompe disease, but corneal clouding is not a feature. (Choice E ) Niemann-Pick disease results from a deficiency of sphingomyelinase, which leads to the accumulation of sphingomyelin within phagocytes. This disease is characterized by hepatosplenomegaly and progressive neurologic deterioration, but eye findings include a cherry-red spot on the macula, not corneal clouding. Educational objective : Hurler syndrome is a mucopolysaccharidosis caused by a deficiency of alpha-L-iduronidase, which hydrolyzes dermatan and heparan sulfate. Accumulation of these substances results in the characteristic features of intellectual disability, coarse facial features, corneal clouding, and hepatosplenomegaly. Early death due to cardiac complications (eg, myocardial infarction) is expected. References • Early disease progression of Hurler syndrome. Block Time Remaining:00:02:05 TUTOR https://t.me/USMLEWorldStep1 i Suspend O End Block — Item1 of1 QuestionW :21503 P'Mark <l Previous > Next r n L J Full Screen © Tutorial i Lab Values =* Notes Calculator Reverse Color CEA ) Text Zoom §! i Settings A (ChoiceC ) Glycogen storage diseases cause defective metabolism of glycogen in the liver and/or muscles. The presentation can include hypoglycemia, lactic acidosis, hepatomegaly, growth retardation, and/or muscle fatigue/cramping. Cardiomegaly can occur with Pompe disease, but corneal clouding is not a feature. (Choice E ) Niemann-Pick disease results from a deficiency of sphingomyelinase, which leads to the accumulation of sphingomyelin within phagocytes. This disease is characterized by hepatosplenomegaly and progressive neurologic deterioration, but eye findings include a cherry-red spot on the macula, not corneal clouding. Educational objective : Hurler syndrome is a mucopolysaccharidosis caused by a deficiency of alpha-L-iduronidase, which hydrolyzes dermatan and heparan sulfate. Accumulation of these substances results in the characteristic features of intellectual disability, coarse facial features, corneal clouding, and hepatosplenomegaly. Early death due to cardiac complications (eg, myocardial infarction) is expected. References • Early disease progression of Hurler syndrome. Block Time Remaining:00:02:05 TUTOR https://t.me/USMLEWorldStep1 i Suspend O End Block — Item 1 of 1 Question W: 21503 P' Mark <l Previous > Next rn L J Full Screen © Tutorial i Lab Values =* Notes Calculator Reverse Color CEA) Text Zoom i§! Settings A ( Choice C ) Glycogen storage diseases cause defective metabolism of glycogen in the liver and/or muscles. The presentation can include hypoglycemia, lactic acidosis, hepatomegaly, growth retardation, and/or muscle fatigue/cramping. Cardiomegaly can occur with Pompe disease, but corneal clouding is not a feature. ( Choice E) Niemann-Pick disease results from a deficiency of sphingomyelinase, which leads to the accumulation of sphingomyelin within phagocytes. This disease is characterized by hepatosplenomegaly and progressive neurologic deterioration, but eye findings include a cherry-red spot on the macula, not corneal clouding. Educational objective: Hurler syndrome is a mucopolysaccharidosis caused by a deficiency of alpha-L-iduronidase, which hydrolyzes dermatan and heparan sulfate. Accumulation of these substances results in the characteristic features of intellectual disability, coarse facial features, corneal clouding, and hepatosplenomegaly. Early death due to cardiac complications (eg, myocardial infarction) is expected. References • Early disease progression of Hurler syndrome. Block Time Remaining: 00:02:05 TUTOR https://t.me/USMLEWorldStep1 i Suspend O End Block — Item1 of1 QuestionW :21503 P'Mark <l Previous > Next r n L J Full Screen © Tutorial i Lab Values =* Notes Calculator Reverse Color CEA ) Text Zoom §! i Settings A (ChoiceC ) Glycogen storage diseases cause defective metabolism of glycogen in the liver and/or muscles. The presentation can include hypoglycemia, lactic acidosis, hepatomegaly, growth retardation, and/or muscle fatigue/cramping. Cardiomegaly can occur with Pompe disease, but corneal clouding is not a feature. (Choice E ) Niemann-Pick disease results from a deficiency of sphingomyelinase, which leads to the accumulation of sphingomyelin within phagocytes. This disease is characterized by hepatosplenomegaly and progressive neurologic deterioration, but eye findings include a cherry-red spot on the macula, not corneal clouding. Educational objective : Hurler syndrome is a mucopolysaccharidosis caused by a deficiency of alpha-L-iduronidase, which hydrolyzes dermatan and heparan sulfate. Accumulation of these substances results in the characteristic features of intellectual disability, coarse facial features, corneal clouding, and hepatosplenomegaly. Early death due to cardiac complications (eg, myocardial infarction) is expected. References • Early disease progression of Hurler syndrome. Block Time Remaining:00:02:05 TUTOR https://t.me/USMLEWorldStep1 i Suspend O End Block — Item 1 of 1 Question W: 21503 P' Mark <l Previous > Next r n L J Full Screen © Tutorial i Lab Values =* Notes Calculator Reverse Color CEA) Text Zoom i§! Settings A ( Choice C ) Glycogen storage diseases cause defective metabolism of glycogen in the liver and /or muscles . The presentation can include hypoglycemia , lactic acidosis , hepatomegaly , growth retardation, and /or muscle fatigue /cramping. Cardiomegaly can occur with Pompe disease , but corneal clouding is not a feature. ( Choice E) Niemann -Pick disease results from a deficiency of sphingomyelinase , which leads to the accumulation of sphingomyelin within phagocytes . This disease is characterized by hepatosplenomegaly and progressive neurologic deterioration, but eye findings include a cherry-red spot on the macula , not corneal clouding . Educational objective: Hurler syndrome is a mucopolysaccharidosis caused by a deficiency of alpha -L-iduronidase , which hydrolyzes dermatan and heparan sulfate . Accumulation of these substances results in the characteristic features of intellectual disability, coarse facial features , corneal clouding, and hepatosplenomegaly . Early death due to cardiac complications (eg , myocardial infarction) is expected . References • Early disease progression of Hurler syndrome . Block Time Remaining: 00:02:05 TUTOR https://t.me /USMLEWorldStep1 i Suspend O End Block — Item 1 of 1 Question W: 21503 P' Mark <l Previous > Next r n L J Full Screen © Tutorial i Lab Values =* Notes Calculator Reverse Color CEA ) Text Zoom i§! Settings A ( Choice C ) Glycogen storage diseases cause defective metabolism of glycogen in the liver and/or muscles. The presentation can include hypoglycemia, lactic acidosis, hepatomegaly, growth retardation, and/or muscle fatigue/cramping. Cardiomegaly can occur with Pompe disease, but corneal clouding is not a feature. ( Choice E) Niemann-Pick disease results from a deficiency of sphingomyelinase, which leads to the accumulation of sphingomyelin within phagocytes. This disease is characterized by hepatosplenomegaly and progressive neurologic deterioration, but eye findings include a cherry-red spot on the macula, not corneal clouding. Educational objective : Hurler syndrome is a mucopolysaccharidosis caused by a deficiency of alpha-L-iduronidase, which hydrolyzes dermatan and heparan sulfate. Accumulation of these substances results in the characteristic features of intellectual disability, coarse facial features, corneal clouding, and hepatosplenomegaly. Early death due to cardiac complications (eg, myocardial infarction) is expected. References • Early disease progression of Hurler syndrome. Block Time Remaining : 00:02: 05 TUTOR https://t.me/USMLEWorldStep1 i Suspend O End Block — Item1 of1 QuestionW :21503 P'Mark <l Previous > Next r n L J Full Screen © Tutorial i Lab Values =* Notes Calculator Reverse Color CEA ) Text Zoom §! i Settings A (ChoiceC ) Glycogenstoragediseasescause defectivemetabolismof glycogenin the liverand/or , growthretardation, , lacticacidosis, hepatomegaly muscles. The presentationcan includehypoglycemia and/or musclefatigue/cramping. Cardiomegalycan occurwith Pompe disease, but cornealcloudingis not a feature. (Choice E ) Niemann-Pick disease resultsfrom a deficiencyof sphingomyelinase , whichleads to the accumulationof sphingomyelinwithinphagocytes. This disease is characterizedby hepatosplenomegaly and progressiveneurologicdeterioration , but eye findingsincludea cherry-red spot on the macula, not cornealclouding. Educational objective : Hurler syndromeis a mucopolysaccharidosis caused by a deficiencyof alpha-L-iduronidase, which hydrolyzesdermatanand heparan sulfate. Accumulationof these substancesresultsin the characteristic , coarse facialfeatures, cornealclouding , and hepatosplenomegaly . Early featuresof intellectualdisability death due to cardiaccomplications(eg, myocardialinfarction) is expected. References • Early diseaseprogressionof Hurler syndrome. Block Time Remaining:00:02:05 TUTOR https://t.me/USMLEWorldStep1 i Suspend O EndBlock — Item1 of1 QuestionW :21503 P'Mark <l Previous > Next r n L J Full Screen © Tutorial i Lab Values =* Notes Calculator Reverse Color CEA ) Text Zoom §! i Settings A (ChoiceC ) Glycogen storage diseases cause defective metabolism of glycogen in the liver and/or muscles. The presentation can include hypoglycemia, lactic acidosis, hepatomegaly, growth retardation, and/or muscle fatigue/cramping. Cardiomegaly can occur with Pompe disease, but corneal clouding is not a feature. (Choice E ) Niemann-Pick disease results from a deficiency of sphingomyelinase, which leads to the accumulation of sphingomyelin within phagocytes. This disease is characterized by hepatosplenomegaly and progressive neurologic deterioration, but eye findings include a cherry-red spot on the macula, not corneal clouding. Educational objective : Hurler syndrome is a mucopolysaccharidosis caused by a deficiency of alpha-L-iduronidase, which hydrolyzes dermatan and heparan sulfate. Accumulation of these substances results in the characteristic features of intellectual disability, coarse facial features, corneal clouding, and hepatosplenomegaly. Early death due to cardiac complications (eg, myocardial infarction) is expected. References • Early disease progression of Hurler syndrome. Block Time Remaining:00:02:05 TUTOR https://t.me/USMLEWorldStep1 i Suspend O End Block — Item 1 of 1 Question W: 21503 P' Mark <l Previous > Next rn L J Full Screen © Tutorial i Lab Values =* Notes Calculator Reverse Color CEA) Text Zoom i§! Settings A ( Choice C ) Glycogen storage diseases cause defective metabolism of glycogen in the liver and/or muscles. The presentation can include hypoglycemia, lactic acidosis, hepatomegaly, growth retardation, and/or muscle fatigue/cramping. Cardiomegaly can occur with Pompe disease, but corneal clouding is not a feature. ( Choice E) Niemann-Pick disease results from a deficiency of sphingomyelinase, which leads to the accumulation of sphingomyelin within phagocytes. This disease is characterized by hepatosplenomegaly and progressive neurologic deterioration, but eye findings include a cherry-red spot on the macula, not corneal clouding. Educational objective: Hurler syndrome is a mucopolysaccharidosis caused by a deficiency of alpha-L-iduronidase, which hydrolyzes dermatan and heparan sulfate. Accumulation of these substances results in the characteristic features of intellectual disability, coarse facial features, corneal clouding, and hepatosplenomegaly. Early death due to cardiac complications (eg, myocardial infarction) is expected. References • Early disease progression of Hurler syndrome. Block Time Remaining: 00:02:05 TUTOR https://t.me/USMLEWorldStep1 i Suspend O End Block — Item 1 of 1 Question W: 21503 P' Mark <l Previous > Next rn L J Full Screen © Tutorial i Lab Values =* Notes Calculator Reverse Color CEA) Text Zoom i§! Settings A ( Choice C ) Glycogen storage diseases cause defective metabolism of glycogen in the liver and/or muscles. The presentation can include hypoglycemia, lactic acidosis, hepatomegaly, growth retardation, and/or muscle fatigue/cramping. Cardiomegaly can occur with Pompe disease, but corneal clouding is not a feature. ( Choice E) Niemann-Pick disease results from a deficiency of sphingomyelinase, which leads to the accumulation of sphingomyelin within phagocytes. This disease is characterized by hepatosplenomegaly and progressive neurologic deterioration, but eye findings include a cherry-red spot on the macula, not corneal clouding. Educational objective: Hurler syndrome is a mucopolysaccharidosis caused by a deficiency of alpha-L-iduronidase, which hydrolyzes dermatan and heparan sulfate. Accumulation of these substances results in the characteristic features of intellectual disability, coarse facial features, corneal clouding, and hepatosplenomegaly. Early death due to cardiac complications (eg, myocardial infarction) is expected. References • Early disease progression of Hurler syndrome. Block Time Remaining: 00:02:05 TUTOR https://t.me/USMLEWorldStep1 i Suspend O End Block — Item1 of1 QuestionW :21503 P'Mark <l Previous > Next r n L J Full Screen © Tutorial i Lab Values =* Notes Calculator Reverse Color CEA ) Text Zoom §! i Settings A (ChoiceC ) Glycogen storage diseases cause defective metabolism of glycogen in the liver and/or muscles. The presentation can include hypoglycemia, lactic acidosis, hepatomegaly, growth retardation, and/or muscle fatigue/cramping. Cardiomegaly can occur with Pompe disease, but corneal clouding is not a feature. (Choice E ) Niemann-Pick disease results from a deficiency of sphingomyelinase, which leads to the accumulation of sphingomyelin within phagocytes. This disease is characterized by hepatosplenomegaly and progressive neurologic deterioration, but eye findings include a cherry-red spot on the macula, not corneal clouding. Educational objective : Hurler syndrome is a mucopolysaccharidosis caused by a deficiency of alpha-L-iduronidase, which hydrolyzes dermatan and heparan sulfate. Accumulation of these substances results in the characteristic features of intellectual disability, coarse facial features, corneal clouding, and hepatosplenomegaly. Early death due to cardiac complications (eg, myocardial infarction) is expected. References • Early disease progression of Hurler syndrome. Block Time Remaining:00:02:05 TUTOR https://t.me/USMLEWorldStep1 i Suspend O End Block — Item 1 of 1 Question W: 21503 P' Mark <l Previous > Next rn L J Full Screen © Tutorial i Lab Values =* Notes Calculator Reverse Color CEA ) Text Zoom i§! Settings A ( Choice C ) Glycogenstoragediseasescause defectivemetabolismof glycogenin the liverand/or , growthretardation, , lacticacidosis, hepatomegaly muscles. The presentationcan includehypoglycemia and/or musclefatigue/cramping. Cardiomegalycan occurwith Pompe disease, but cornealcloudingis not a feature. ( Choice E) Niemann-Pick disease resultsfrom a deficiencyof sphingomyelinase , whichleads to the accumulationof sphingomyelinwithinphagocytes. This disease is characterizedby hepatosplenomegaly and progressiveneurologicdeterioration , but eye findingsincludea cherry-red spot on the macula, not cornealclouding. Educational objective : Hurler syndromeis a mucopolysaccharidosis caused by a deficiencyof alpha-L-iduronidase, which hydrolyzesdermatanand heparan sulfate. Accumulationof these substancesresultsin the characteristic , coarse facialfeatures, cornealclouding , and hepatosplenomegaly . Early featuresof intellectualdisability death due to cardiaccomplications(eg, myocardialinfarction) is expected. References • Early diseaseprogressionof Hurler syndrome. Block Time Remaining : 00:02: 05 TUTOR https://t.me/USMLEWorldStep1 i Suspend O EndBlock — Item1 of1 QuestionW :21503 P'Mark <l Previous > Next r n L J Full Screen © Tutorial i Lab Values =* Notes Calculator Reverse Color CEA ) Text Zoom §! i Settings A (ChoiceC ) Glycogen storage diseases cause defective metabolism of glycogen in the liver and/or muscles. The presentation can include hypoglycemia, lactic acidosis, hepatomegaly, growth retardation, and/or muscle fatigue/cramping. Cardiomegaly can occur with Pompe disease, but corneal clouding is not a feature. (Choice E ) Niemann-Pick disease results from a deficiency of sphingomyelinase, which leads to the accumulation of sphingomyelin within phagocytes. This disease is characterized by hepatosplenomegaly and progressive neurologic deterioration, but eye findings include a cherry-red spot on the macula, not corneal clouding. Educational objective : Hurler syndrome is a mucopolysaccharidosis caused by a deficiency of alpha-L-iduronidase, which hydrolyzes dermatan and heparan sulfate. Accumulation of these substances results in the characteristic features of intellectual disability, coarse facial features, corneal clouding, and hepatosplenomegaly. Early death due to cardiac complications (eg, myocardial infarction) is expected. References • Early disease progression of Hurler syndrome. Block Time Remaining:00:02:05 TUTOR https://t.me/USMLEWorldStep1 i Suspend O End Block — Item 1 of 1 Question W: 21503 P' Mark <l Previous > Next rn L J Full Screen © Tutorial i Lab Values =* Notes Calculator Reverse Color CEA) Text Zoom i§! Settings A ( Choice C ) Glycogen storage diseases cause defective metabolism of glycogen in the liver and/or muscles. The presentation can include hypoglycemia, lactic acidosis, hepatomegaly, growth retardation, and/or muscle fatigue/cramping. Cardiomegaly can occur with Pompe disease, but corneal clouding is not a feature. ( Choice E) Niemann-Pick disease results from a deficiency of sphingomyelinase, which leads to the accumulation of sphingomyelin within phagocytes. This disease is characterized by hepatosplenomegaly and progressive neurologic deterioration, but eye findings include a cherry-red spot on the macula, not corneal clouding. Educational objective: Hurler syndrome is a mucopolysaccharidosis caused by a deficiency of alpha-L-iduronidase, which hydrolyzes dermatan and heparan sulfate. Accumulation of these substances results in the characteristic features of intellectual disability, coarse facial features, corneal clouding, and hepatosplenomegaly. Early death due to cardiac complications (eg, myocardial infarction) is expected. References • Early disease progression of Hurler syndrome. Block Time Remaining: 00:02:05 TUTOR https://t.me/USMLEWorldStep1 i Suspend O End Block — Item1 of1 QuestionW :21503 P'Mark <l Previous > Next r n L J Full Screen © Tutorial i Lab Values =* Notes Calculator Reverse Color CEA ) Text Zoom §! i Settings A (ChoiceC ) Glycogenstoragediseasescause defectivemetabolismof glycogenin the liverand/or , growthretardation, , lacticacidosis, hepatomegaly muscles. The presentationcan includehypoglycemia and/or musclefatigue/cramping. Cardiomegalycan occurwith Pompe disease, but cornealcloudingis not a feature. (Choice E ) Niemann-Pick disease resultsfrom a deficiencyof sphingomyelinase , whichleads to the accumulationof sphingomyelinwithinphagocytes. This disease is characterizedby hepatosplenomegaly and progressiveneurologicdeterioration , but eye findingsincludea cherry-red spot on the macula, not cornealclouding. Educational objective : Hurler syndromeis a mucopolysaccharidosis caused by a deficiencyof alpha-L-iduronidase, which hydrolyzesdermatanand heparan sulfate. Accumulationof these substancesresultsin the characteristic , coarse facialfeatures, cornealclouding , and hepatosplenomegaly . Early featuresof intellectualdisability death due to cardiaccomplications(eg, myocardialinfarction) is expected. References • Early diseaseprogressionof Hurler syndrome. Block Time Remaining:00:02:05 TUTOR https://t.me/USMLEWorldStep1 i Suspend O EndBlock — Item1 of1 QuestionW :21503 P'Mark <l Previous > Next r n L J Full Screen © Tutorial i Lab Values =* Notes Calculator Reverse Color CEA ) Text Zoom §! i Settings A (ChoiceC ) Glycogenstoragediseasescause defectivemetabolismof glycogenin the liverand/or , growthretardation, , lacticacidosis, hepatomegaly muscles. The presentationcan includehypoglycemia and/or musclefatigue/cramping. Cardiomegalycan occurwith Pompe disease, but cornealcloudingis not a feature. (Choice E ) Niemann-Pick disease resultsfrom a deficiencyof sphingomyelinase , whichleads to the accumulationof sphingomyelinwithinphagocytes. This disease is characterizedby hepatosplenomegaly and progressiveneurologicdeterioration , but eye findingsincludea cherry-red spot on the macula, not cornealclouding. Educational objective : Hurler syndromeis a mucopolysaccharidosis caused by a deficiencyof alpha-L-iduronidase, which hydrolyzesdermatanand heparan sulfate. Accumulationof these substancesresultsin the characteristic , coarse facialfeatures, cornealclouding , and hepatosplenomegaly . Early featuresof intellectualdisability death due to cardiaccomplications(eg, myocardialinfarction) is expected. References • Early diseaseprogressionof Hurler syndrome. Block Time Remaining:00:02:05 TUTOR https://t.me/USMLEWorldStep1 i Suspend O EndBlock — Item 1 of 1 Question W: 21503 P' Mark <l Previous > Next r n L J Full Screen © Tutorial i Lab Values =* Notes Calculator Reverse Color CEA ) Text Zoom i§! Settings A ( Choice C ) Glycogen storage diseases cause defective metabolism of glycogen in the liver and/or muscles. The presentation can include hypoglycemia, lactic acidosis, hepatomegaly, growth retardation, and/or muscle fatigue/cramping. Cardiomegaly can occur with Pompe disease, but corneal clouding is not a feature. ( Choice E) Niemann-Pick disease results from a deficiency of sphingomyelinase, which leads to the accumulation of sphingomyelin within phagocytes. This disease is characterized by hepatosplenomegaly and progressive neurologic deterioration, but eye findings include a cherry-red spot on the macula, not corneal clouding. Educational objective : Hurler syndrome is a mucopolysaccharidosis caused by a deficiency of alpha-L-iduronidase, which hydrolyzes dermatan and heparan sulfate. Accumulation of these substances results in the characteristic features of intellectual disability, coarse facial features, corneal clouding, and hepatosplenomegaly. Early death due to cardiac complications (eg, myocardial infarction) is expected. References • Early disease progression of Hurler syndrome. Block Time Remaining : 00:02: 05 TUTOR https://t.me/USMLEWorldStep1 i Suspend O End Block — Item1 of1 QuestionW :21503 P'Mark <l Previous > Next r n L J Full Screen © Tutorial i Lab Values =* Notes Calculator Reverse Color CEA ) Text Zoom §! i Settings A (ChoiceC ) Glycogen storage diseases cause defective metabolism of glycogen in the liver and/or muscles. The presentation can include hypoglycemia, lactic acidosis, hepatomegaly, growth retardation, and/or muscle fatigue/cramping. Cardiomegaly can occur with Pompe disease, but corneal clouding is not a feature. (Choice E ) Niemann-Pick disease results from a deficiency of sphingomyelinase, which leads to the accumulation of sphingomyelin within phagocytes. This disease is characterized by hepatosplenomegaly and progressive neurologic deterioration, but eye findings include a cherry-red spot on the macula, not corneal clouding. Educational objective : Hurler syndrome is a mucopolysaccharidosis caused by a deficiency of alpha-L-iduronidase, which hydrolyzes dermatan and heparan sulfate. Accumulation of these substances results in the characteristic features of intellectual disability, coarse facial features, corneal clouding, and hepatosplenomegaly. Early death due to cardiac complications (eg, myocardial infarction) is expected. References • Early disease progression of Hurler syndrome. Block Time Remaining:00:02:05 TUTOR https://t.me/USMLEWorldStep1 i Suspend O End Block — Item 1 of 1 Question W: 21503 P ' Mark <l Previous > Next r n L J Full Screen © Tutorial i Lab Values =* Notes Calculator Reverse Color CEA ) Text Zoom i§! Settings A ( Choice C ) Glycogen storage diseases cause defective metabolism of glycogen in the liver and/or muscles. The presentation can include hypoglycemia, lactic acidosis, hepatomegaly, growth retardation, and/or muscle fatigue/cramping. Cardiomegaly can occur with Pompe disease, but corneal clouding is not a feature. ( Choice E ) Niemann-Pick disease results from a deficiency of sphingomyelinase, which leads to the accumulation of sphingomyelin within phagocytes. This disease is characterized by hepatosplenomegaly and progressive neurologic deterioration, but eye findings include a cherry-red spot on the macula, not corneal clouding. Educational objective : Hurler syndrome is a mucopolysaccharidosis caused by a deficiency of alpha-L-iduronidase, which hydrolyzes dermatan and heparan sulfate. Accumulation of these substances results in the characteristic features of intellectual disability, coarse facial features, corneal clouding, and hepatosplenomegaly. Early death due to cardiac complications (eg, myocardial infarction) is expected. References • Early disease progression of Hurler syndrome. Block Time Remaining : 00 :02 : 05 TUTOR https://t.me/USMLEWorldStep1 i Suspend O End Block — Item1 of1 QuestionW :21503 P'Mark <l Previous > Next r n L J Full Screen © Tutorial i Lab Values =* Notes Calculator Reverse Color CEA ) Text Zoom §! i Settings A (ChoiceC ) Glycogenstoragediseasescause defectivemetabolismof glycogenin the liverand/or , growthretardation, , lacticacidosis, hepatomegaly muscles. The presentationcan includehypoglycemia and/or musclefatigue/cramping. Cardiomegalycan occurwith Pompe disease, but cornealcloudingis not a feature. (Choice E ) Niemann-Pick disease resultsfrom a deficiencyof sphingomyelinase , whichleads to the accumulationof sphingomyelinwithinphagocytes. This disease is characterizedby hepatosplenomegaly and progressiveneurologicdeterioration , but eye findingsincludea cherry-red spot on the macula, not cornealclouding. Educational objective : Hurler syndromeis a mucopolysaccharidosis caused by a deficiencyof alpha-L-iduronidase, which hydrolyzesdermatanand heparan sulfate. Accumulationof these substancesresultsin the characteristic , coarse facialfeatures, cornealclouding , and hepatosplenomegaly . Early featuresof intellectualdisability death due to cardiaccomplications(eg, myocardialinfarction) is expected. References • Early diseaseprogressionof Hurler syndrome. Block Time Remaining:00:02:05 TUTOR https://t.me/USMLEWorldStep1 i Suspend O EndBlock — Item1 of1 QuestionW :21503 P'Mark <l Previous > Next r n L J Full Screen © Tutorial i Lab Values =* Notes Calculator Reverse Color CEA ) Text Zoom §! i Settings A (ChoiceC ) Glycogen storage diseases cause defective metabolism of glycogen in the liver and/or muscles. The presentation can include hypoglycemia, lactic acidosis, hepatomegaly, growth retardation, and/or muscle fatigue/cramping. Cardiomegaly can occur with Pompe disease, but corneal clouding is not a feature. (Choice E ) Niemann-Pick disease results from a deficiency of sphingomyelinase, which leads to the accumulation of sphingomyelin within phagocytes. This disease is characterized by hepatosplenomegaly and progressive neurologic deterioration, but eye findings include a cherry-red spot on the macula, not corneal clouding. Educational objective : Hurler syndrome is a mucopolysaccharidosis caused by a deficiency of alpha-L-iduronidase, which hydrolyzes dermatan and heparan sulfate. Accumulation of these substances results in the characteristic features of intellectual disability, coarse facial features, corneal clouding, and hepatosplenomegaly. Early death due to cardiac complications (eg, myocardial infarction) is expected. References • Early disease progression of Hurler syndrome. Block Time Remaining:00:02:05 TUTOR https://t.me/USMLEWorldStep1 i Suspend O End Block — Item 1 of 1 Question W: 21503 P' Mark <l Previous > Next rn L J Full Screen © Tutorial i Lab Values =* Notes Calculator Reverse Color CEA) Text Zoom i§! Settings A ( Choice C ) Glycogen storage diseases cause defective metabolism of glycogen in the liver and/or muscles. The presentation can include hypoglycemia, lactic acidosis, hepatomegaly, growth retardation, and/or muscle fatigue/cramping. Cardiomegaly can occur with Pompe disease, but corneal clouding is not a feature. ( Choice E) Niemann-Pick disease results from a deficiency of sphingomyelinase, which leads to the accumulation of sphingomyelin within phagocytes. This disease is characterized by hepatosplenomegaly and progressive neurologic deterioration, but eye findings include a cherry-red spot on the macula, not corneal clouding. Educational objective: Hurler syndrome is a mucopolysaccharidosis caused by a deficiency of alpha-L-iduronidase, which hydrolyzes dermatan and heparan sulfate. Accumulation of these substances results in the characteristic features of intellectual disability, coarse facial features, corneal clouding, and hepatosplenomegaly. Early death due to cardiac complications (eg, myocardial infarction) is expected. References • Early disease progression of Hurler syndrome. Block Time Remaining: 00:02:05 TUTOR https://t.me/USMLEWorldStep1 i Suspend O End Block — Item 1 of 1 Question W: 21503 P' Mark <l Previous > Next r n L J Full Screen © Tutorial i Lab Values =* Notes Calculator Reverse Color CEA ) Text Zoom i§! Settings A ( Choice C ) Glycogenstoragediseasescause defectivemetabolismof glycogenin the liverand/or , growthretardation, , lacticacidosis, hepatomegaly muscles. The presentationcan includehypoglycemia and/or musclefatigue/cramping. Cardiomegalycan occurwith Pompe disease, but cornealcloudingis not a feature. ( Choice E) Niemann-Pick disease resultsfrom a deficiencyof sphingomyelinase , whichleads to the accumulationof sphingomyelinwithinphagocytes. This disease is characterizedby hepatosplenomegaly and progressiveneurologicdeterioration , but eye findingsincludea cherry-red spot on the macula, not cornealclouding. Educational objective : Hurler syndromeis a mucopolysaccharidosis caused by a deficiencyof alpha-L-iduronidase, which hydrolyzesdermatanand heparan sulfate. Accumulationof these substancesresultsin the characteristic , coarse facialfeatures, cornealclouding , and hepatosplenomegaly . Early featuresof intellectualdisability death due to cardiaccomplications(eg, myocardialinfarction) is expected. References • Early diseaseprogressionof Hurler syndrome. Block Time Remaining : 00:02: 05 TUTOR https://t.me/USMLEWorldStep1 i Suspend O EndBlock — Item1 of1 QuestionW :21503 P'Mark <l Previous > Next r n L J Full Screen © Tutorial i Lab Values =* Notes Calculator Reverse Color CEA ) Text Zoom §! i Settings A (ChoiceC ) Glycogen storage diseases cause defective metabolism of glycogen in the liver and/or muscles. The presentation can include hypoglycemia, lactic acidosis, hepatomegaly, growth retardation, and/or muscle fatigue/cramping. Cardiomegaly can occur with Pompe disease, but corneal clouding is not a feature. (Choice E ) Niemann-Pick disease results from a deficiency of sphingomyelinase, which leads to the accumulation of sphingomyelin within phagocytes. This disease is characterized by hepatosplenomegaly and progressive neurologic deterioration, but eye findings include a cherry-red spot on the macula, not corneal clouding. Educational objective : Hurler syndrome is a mucopolysaccharidosis caused by a deficiency of alpha-L-iduronidase, which hydrolyzes dermatan and heparan sulfate. Accumulation of these substances results in the characteristic features of intellectual disability, coarse facial features, corneal clouding, and hepatosplenomegaly. Early death due to cardiac complications (eg, myocardial infarction) is expected. References • Early disease progression of Hurler syndrome. Block Time Remaining:00:02:05 TUTOR https://t.me/USMLEWorldStep1 i Suspend O End Block — Item 1 of 1 Question W: 21503 P' Mark <l Previous > Next rn L J Full Screen © Tutorial i Lab Values =* Notes Calculator Reverse Color CEA ) Text Zoom i§! Settings A ( Choice C ) Glycogenstoragediseasescause defectivemetabolismof glycogenin the liverand/or , growthretardation, , lacticacidosis, hepatomegaly muscles. The presentationcan includehypoglycemia and/or musclefatigue/cramping. Cardiomegalycan occurwith Pompe disease, but cornealcloudingis not a feature. ( Choice E) Niemann-Pick disease resultsfrom a deficiencyof sphingomyelinase , whichleads to the accumulationof sphingomyelinwithinphagocytes. This disease is characterizedby hepatosplenomegaly and progressiveneurologicdeterioration , but eye findingsincludea cherry-red spot on the macula, not cornealclouding. Educational objective : Hurler syndromeis a mucopolysaccharidosis caused by a deficiencyof alpha-L-iduronidase, which hydrolyzesdermatanand heparan sulfate. Accumulationof these substancesresultsin the characteristic , coarse facialfeatures, cornealclouding , and hepatosplenomegaly . Early featuresof intellectualdisability death due to cardiaccomplications(eg, myocardialinfarction) is expected. References • Early diseaseprogressionof Hurler syndrome. Block Time Remaining : 00:02: 05 TUTOR https://t.me/USMLEWorldStep1 i Suspend O EndBlock — Item 1 of 1 Question W: 21503 P' Mark <l Previous > Next rn L J Full Screen © Tutorial i Lab Values =* Notes Calculator Reverse Color CEA) Text Zoom i§! Settings A ( Choice C ) Glycogen storage diseases cause defective metabolism of glycogen in the liver and/or muscles. The presentation can include hypoglycemia, lactic acidosis, hepatomegaly, growth retardation, and/or muscle fatigue/cramping. Cardiomegaly can occur with Pompe disease, but corneal clouding is not a feature. ( Choice E) Niemann-Pick disease results from a deficiency of sphingomyelinase, which leads to the accumulation of sphingomyelin within phagocytes. This disease is characterized by hepatosplenomegaly and progressive neurologic deterioration, but eye findings include a cherry-red spot on the macula, not corneal clouding. Educational objective: Hurler syndrome is a mucopolysaccharidosis caused by a deficiency of alpha-L-iduronidase, which hydrolyzes dermatan and heparan sulfate. Accumulation of these substances results in the characteristic features of intellectual disability, coarse facial features, corneal clouding, and hepatosplenomegaly. Early death due to cardiac complications (eg, myocardial infarction) is expected. References • Early disease progression of Hurler syndrome. Block Time Remaining: 00:02:05 TUTOR https://t.me/USMLEWorldStep1 i Suspend O End Block — Item 1 of 1 Question W: 21503 P' Mark <l Previous > Next rn L J Full Screen © Tutorial i Lab Values =* Notes Calculator Reverse Color CEA) Text Zoom i§! Settings A ( Choice C ) Glycogen storage diseases cause defective metabolism of glycogen in the liver and/or muscles. The presentation can include hypoglycemia, lactic acidosis, hepatomegaly, growth retardation, and/or muscle fatigue/cramping. Cardiomegaly can occur with Pompe disease, but corneal clouding is not a feature. ( Choice E) Niemann-Pick disease results from a deficiency of sphingomyelinase, which leads to the accumulation of sphingomyelin within phagocytes. This disease is characterized by hepatosplenomegaly and progressive neurologic deterioration, but eye findings include a cherry-red spot on the macula, not corneal clouding. Educational objective: Hurler syndrome is a mucopolysaccharidosis caused by a deficiency of alpha-L-iduronidase, which hydrolyzes dermatan and heparan sulfate. Accumulation of these substances results in the characteristic features of intellectual disability, coarse facial features, corneal clouding, and hepatosplenomegaly. Early death due to cardiac complications (eg, myocardial infarction) is expected. References • Early disease progression of Hurler syndrome. Block Time Remaining: 00:02:05 TUTOR https://t.me/USMLEWorldStep1 i Suspend O End Block — Item1 of1 QuestionW :21503 P'Mark <l Previous > Next r n L J Full Screen © Tutorial i Lab Values =* Notes Calculator Reverse Color CEA ) Text Zoom §! i Settings A (ChoiceC ) Glycogenstoragediseasescause defectivemetabolismof glycogenin the liverand/or , growthretardation, , lacticacidosis, hepatomegaly muscles. The presentationcan includehypoglycemia and/or musclefatigue/cramping. Cardiomegalycan occurwith Pompe disease, but cornealcloudingis not a feature. (Choice E ) Niemann-Pick disease resultsfrom a deficiencyof sphingomyelinase , whichleads to the accumulationof sphingomyelinwithinphagocytes. This disease is characterizedby hepatosplenomegaly and progressiveneurologicdeterioration , but eye findingsincludea cherry-red spot on the macula, not cornealclouding. Educational objective : Hurler syndromeis a mucopolysaccharidosis caused by a deficiencyof alpha-L-iduronidase, which hydrolyzesdermatanand heparan sulfate. Accumulationof these substancesresultsin the characteristic , coarse facialfeatures, cornealclouding , and hepatosplenomegaly . Early featuresof intellectualdisability death due to cardiaccomplications(eg, myocardialinfarction) is expected. References • Early diseaseprogressionof Hurler syndrome. Block Time Remaining:00:02:05 TUTOR https://t.me/USMLEWorldStep1 i Suspend O EndBlock — Item 1 of 1 Question W: 21503 P' Mark <l Previous > Next r n L J Full Screen © Tutorial i Lab Values =* Notes Calculator Reverse Color CEA ) Text Zoom i§! Settings A ( Choice C ) Glycogenstoragediseasescause defectivemetabolismof glycogenin the liverand/or , growthretardation, , lacticacidosis, hepatomegaly muscles. The presentationcan includehypoglycemia and/or musclefatigue/cramping. Cardiomegalycan occurwith Pompe disease, but cornealcloudingis not a feature. ( Choice E) Niemann-Pick disease resultsfrom a deficiencyof sphingomyelinase , whichleads to the accumulationof sphingomyelinwithinphagocytes. This disease is characterizedby hepatosplenomegaly and progressiveneurologicdeterioration , but eye findingsincludea cherry-red spot on the macula, not cornealclouding. Educational objective : Hurler syndromeis a mucopolysaccharidosis caused by a deficiencyof alpha-L-iduronidase, which hydrolyzesdermatanand heparan sulfate. Accumulationof these substancesresultsin the characteristic , coarse facialfeatures, cornealclouding , and hepatosplenomegaly . Early featuresof intellectualdisability death due to cardiaccomplications(eg, myocardialinfarction) is expected. References • Early diseaseprogressionof Hurler syndrome. Block Time Remaining : 00:02: 05 TUTOR https://t.me/USMLEWorldStep1 i Suspend O EndBlock — Item1 of1 QuestionW :21503 P'Mark <l Previous > Next r n L J Full Screen © Tutorial i Lab Values =* Notes Calculator Reverse Color CEA ) Text Zoom §! i Settings A (ChoiceC ) Glycogen storage diseases cause defective metabolism of glycogen in the liver and/or muscles. The presentation can include hypoglycemia, lactic acidosis, hepatomegaly, growth retardation, and/or muscle fatigue/cramping. Cardiomegaly can occur with Pompe disease, but corneal clouding is not a feature. (Choice E ) Niemann-Pick disease results from a deficiency of sphingomyelinase, which leads to the accumulation of sphingomyelin within phagocytes. This disease is characterized by hepatosplenomegaly and progressive neurologic deterioration, but eye findings include a cherry-red spot on the macula, not corneal clouding. Educational objective : Hurler syndrome is a mucopolysaccharidosis caused by a deficiency of alpha-L-iduronidase, which hydrolyzes dermatan and heparan sulfate. Accumulation of these substances results in the characteristic features of intellectual disability, coarse facial features, corneal clouding, and hepatosplenomegaly. Early death due to cardiac complications (eg, myocardial infarction) is expected. References • Early disease progression of Hurler syndrome. Block Time Remaining:00:02:05 TUTOR https://t.me/USMLEWorldStep1 i Suspend O End Block — Item1 of1 QuestionW :21503 P'Mark <l Previous > Next r n L J Full Screen © Tutorial i Lab Values =* Notes Calculator Reverse Color CEA ) Text Zoom §! i Settings A (ChoiceC ) Glycogenstoragediseasescause defectivemetabolismof glycogenin the liverand/or , growthretardation, , lacticacidosis, hepatomegaly muscles. The presentationcan includehypoglycemia and/or musclefatigue/cramping. Cardiomegalycan occurwith Pompe disease, but cornealcloudingis not a feature. (Choice E ) Niemann-Pick disease resultsfrom a deficiencyof sphingomyelinase , whichleads to the accumulationof sphingomyelinwithinphagocytes. This disease is characterizedby hepatosplenomegaly and progressiveneurologicdeterioration , but eye findingsincludea cherry-red spot on the macula, not cornealclouding. Educational objective : Hurler syndromeis a mucopolysaccharidosis caused by a deficiencyof alpha-L-iduronidase, which hydrolyzesdermatanand heparan sulfate. Accumulationof these substancesresultsin the characteristic , coarse facialfeatures, cornealclouding , and hepatosplenomegaly . Early featuresof intellectualdisability death due to cardiaccomplications(eg, myocardialinfarction) is expected. References • Early diseaseprogressionof Hurler syndrome. Block Time Remaining:00:02:05 TUTOR https://t.me/USMLEWorldStep1 i Suspend O EndBlock — Item 1 of 1 Question W: 21503 P' Mark <l Previous > Next rn L J Full Screen © Tutorial i Lab Values =* Notes Calculator Reverse Color CEA) Text Zoom i§! Settings A ( Choice C ) Glycogen storage diseases cause defective metabolism of glycogen in the liver and/or muscles. The presentation can include hypoglycemia, lactic acidosis, hepatomegaly, growth retardation, and/or muscle fatigue/cramping. Cardiomegaly can occur with Pompe disease, but corneal clouding is not a feature. ( Choice E) Niemann-Pick disease results from a deficiency of sphingomyelinase, which leads to the accumulation of sphingomyelin within phagocytes. This disease is characterized by hepatosplenomegaly and progressive neurologic deterioration, but eye findings include a cherry-red spot on the macula, not corneal clouding. Educational objective: Hurler syndrome is a mucopolysaccharidosis caused by a deficiency of alpha-L-iduronidase, which hydrolyzes dermatan and heparan sulfate. Accumulation of these substances results in the characteristic features of intellectual disability, coarse facial features, corneal clouding, and hepatosplenomegaly. Early death due to cardiac complications (eg, myocardial infarction) is expected. References • Early disease progression of Hurler syndrome. Block Time Remaining: 00:02:05 TUTOR https://t.me/USMLEWorldStep1 i Suspend O End Block — Item1 of1 QuestionW :21503 P'Mark <l Previous > Next r n L J Full Screen © Tutorial i Lab Values =* Notes Calculator Reverse Color CEA ) Text Zoom §! i Settings A (ChoiceC ) Glycogenstoragediseasescause defectivemetabolismof glycogenin the liverand/or , growthretardation, , lacticacidosis, hepatomegaly muscles. The presentationcan includehypoglycemia and/or musclefatigue/cramping. Cardiomegalycan occurwith Pompe disease, but cornealcloudingis not a feature. (Choice E ) Niemann-Pick disease resultsfrom a deficiencyof sphingomyelinase , whichleads to the accumulationof sphingomyelinwithinphagocytes. This disease is characterizedby hepatosplenomegaly and progressiveneurologicdeterioration , but eye findingsincludea cherry-red spot on the macula, not cornealclouding. Educational objective : Hurler syndromeis a mucopolysaccharidosis caused by a deficiencyof alpha-L-iduronidase, which hydrolyzesdermatanand heparan sulfate. Accumulationof these substancesresultsin the characteristic , coarse facialfeatures, cornealclouding , and hepatosplenomegaly . Early featuresof intellectualdisability death due to cardiaccomplications(eg, myocardialinfarction) is expected. References • Early diseaseprogressionof Hurler syndrome. Block Time Remaining:00:02:05 TUTOR https://t.me/USMLEWorldStep1 i Suspend O EndBlock — Item 1 of 1 Question W: 21503 P' Mark <l Previous > Next r n L J Full Screen © Tutorial i Lab Values =* Notes Calculator Reverse Color CEA ) Text Zoom i§! Settings A ( Choice C ) Glycogenstoragediseasescause defectivemetabolismof glycogenin the liverand/or , growthretardation, , lacticacidosis, hepatomegaly muscles. The presentationcan includehypoglycemia and/or musclefatigue/cramping. Cardiomegalycan occurwith Pompe disease, but cornealcloudingis not a feature. ( Choice E) Niemann-Pick disease resultsfrom a deficiencyof sphingomyelinase , whichleads to the accumulationof sphingomyelinwithinphagocytes. This disease is characterizedby hepatosplenomegaly and progressiveneurologicdeterioration , but eye findingsincludea cherry-red spot on the macula, not cornealclouding. Educational objective : Hurler syndromeis a mucopolysaccharidosis caused by a deficiencyof alpha-L-iduronidase, which hydrolyzesdermatanand heparan sulfate. Accumulationof these substancesresultsin the characteristic , coarse facialfeatures, cornealclouding , and hepatosplenomegaly . Early featuresof intellectualdisability death due to cardiaccomplications(eg, myocardialinfarction) is expected. References • Early diseaseprogressionof Hurler syndrome. Block Time Remaining : 00:02: 05 TUTOR https://t.me/USMLEWorldStep1 i Suspend O EndBlock — Item1 of1 QuestionW :21503 P'Mark <l Previous > Next r n L J Full Screen © Tutorial i Lab Values =* Notes Calculator Reverse Color CEA ) Text Zoom §! i Settings A (ChoiceC ) Glycogenstoragediseasescause defectivemetabolismof glycogenin the liverand/or , growthretardation, , lacticacidosis, hepatomegaly muscles. The presentationcan includehypoglycemia and/or musclefatigue/cramping. Cardiomegalycan occurwith Pompe disease, but cornealcloudingis not a feature. (Choice E ) Niemann-Pick disease resultsfrom a deficiencyof sphingomyelinase , whichleads to the accumulationof sphingomyelinwithinphagocytes. This disease is characterizedby hepatosplenomegaly and progressiveneurologicdeterioration , but eye findingsincludea cherry-red spot on the macula, not cornealclouding. Educational objective : Hurler syndromeis a mucopolysaccharidosis caused by a deficiencyof alpha-L-iduronidase, which hydrolyzesdermatanand heparan sulfate. Accumulationof these substancesresultsin the characteristic , coarse facialfeatures, cornealclouding , and hepatosplenomegaly . Early featuresof intellectualdisability death due to cardiaccomplications(eg, myocardialinfarction) is expected. References • Early diseaseprogressionof Hurler syndrome. Block Time Remaining:00:02:05 TUTOR https://t.me/USMLEWorldStep1 i Suspend O EndBlock — Item1 of1 QuestionW :21503 P'Mark <l Previous > Next r n L J Full Screen © Tutorial i Lab Values =* Notes Calculator Reverse Color CEA ) Text Zoom §! i Settings A (ChoiceC ) Glycogen storage diseases cause defective metabolism of glycogen in the liver and/or muscles. The presentation can include hypoglycemia, lactic acidosis, hepatomegaly, growth retardation, and/or muscle fatigue/cramping. Cardiomegaly can occur with Pompe disease, but corneal clouding is not a feature. (Choice E ) Niemann-Pick disease results from a deficiency of sphingomyelinase, which leads to the accumulation of sphingomyelin within phagocytes. This disease is characterized by hepatosplenomegaly and progressive neurologic deterioration, but eye findings include a cherry-red spot on the macula, not corneal clouding. Educational objective : Hurler syndrome is a mucopolysaccharidosis caused by a deficiency of alpha-L-iduronidase, which hydrolyzes dermatan and heparan sulfate. Accumulation of these substances results in the characteristic features of intellectual disability, coarse facial features, corneal clouding, and hepatosplenomegaly. Early death due to cardiac complications (eg, myocardial infarction) is expected. References • Early disease progression of Hurler syndrome. Block Time Remaining:00:02:05 TUTOR https://t.me/USMLEWorldStep1 i Suspend O End Block — Item1 of1 QuestionW :21503 P'Mark <l Previous > Next r n L J Full Screen © Tutorial i Lab Values =* Notes Calculator Reverse Color CEA ) Text Zoom §! i Settings A (ChoiceC ) Glycogenstoragediseasescause defectivemetabolismof glycogenin the liverand/or , growthretardation, , lacticacidosis, hepatomegaly muscles. The presentationcan includehypoglycemia and/or musclefatigue/cramping. Cardiomegalycan occurwith Pompe disease, but cornealcloudingis not a feature. (Choice E ) Niemann-Pick disease resultsfrom a deficiencyof sphingomyelinase , whichleads to the accumulationof sphingomyelinwithinphagocytes. This disease is characterizedby hepatosplenomegaly and progressiveneurologicdeterioration , but eye findingsincludea cherry-red spot on the macula, not cornealclouding. Educational objective : Hurler syndromeis a mucopolysaccharidosis caused by a deficiencyof alpha-L-iduronidase, which hydrolyzesdermatanand heparan sulfate. Accumulationof these substancesresultsin the characteristic , coarse facialfeatures, cornealclouding , and hepatosplenomegaly . Early featuresof intellectualdisability death due to cardiaccomplications(eg, myocardialinfarction) is expected. References • Early diseaseprogressionof Hurler syndrome. Block Time Remaining:00:02:05 TUTOR https://t.me/USMLEWorldStep1 i Suspend O EndBlock — Item1 of1 QuestionW :21503 P'Mark <l Previous > Next r n L J Full Screen © Tutorial i Lab Values =* Notes Calculator Reverse Color CEA ) Text Zoom §! i Settings A (ChoiceC ) Glycogen storage diseases cause defective metabolism of glycogen in the liver and/or muscles. The presentation can include hypoglycemia, lactic acidosis, hepatomegaly, growth retardation, and/or muscle fatigue/cramping. Cardiomegaly can occur with Pompe disease, but corneal clouding is not a feature. (Choice E ) Niemann-Pick disease results from a deficiency of sphingomyelinase, which leads to the accumulation of sphingomyelin within phagocytes. This disease is characterized by hepatosplenomegaly and progressive neurologic deterioration, but eye findings include a cherry-red spot on the macula, not corneal clouding. Educational objective : Hurler syndrome is a mucopolysaccharidosis caused by a deficiency of alpha-L-iduronidase, which hydrolyzes dermatan and heparan sulfate. Accumulation of these substances results in the characteristic features of intellectual disability, coarse facial features, corneal clouding, and hepatosplenomegaly. Early death due to cardiac complications (eg, myocardial infarction) is expected. References • Early disease progression of Hurler syndrome. Block Time Remaining:00:02:05 TUTOR https://t.me/USMLEWorldStep1 i Suspend O End Block — Item 1 of 1 Question W: 21503 P' Mark <l > Previous Next r n L J Full Screen © Tutorial i LabValues =* Notes Calculator ReverseColor CEA) TextZoom i§! Settings A ( Choice C ) Glycogenstorage diseases ofglycogen intheliver causedefective metabolism and/or hypoglycemia ,growthretardation , . The presentation ,lactic muscles acidosis can include ,hepatomegaly /cramping canoccurwithPompe disease and/ormusclefatigue isnot ,butcorneal clouding . Cardiomegaly a feature . ( Choice E) Niemann-Pickdiseaseresults ,whichleadstothe froma deficiency ofsphingomyelinase accumulation ofsphingomyelin phagocytes by hepatosplenomegaly within . Thisdiseaseischaracterized neurologic a cherry and progressive deterioration include ,buteye findings -redspoton themacula,not clouding corneal . Educational objective: ,which syndromeisa mucopolysaccharidosis Hurler ofalpha causedby a deficiency -L-iduronidase hydrolyzes results ofthesesubstances dermatanand heparansulfate inthecharacteristic . Accumulation ofintellectual features ,coarsefacial disability clouding ,corneal ,and hepatosplenomegaly . Early features (eg,myocardial )isexpected complications deathdue tocardiac infarction . References ofHurler syndrome. • Earlydiseaseprogression Block Time Remaining: 00:02:05 TUTOR https ://t.me /USMLEWorldStep1 i O Suspend End Block — Item 1 of 1 Question W: 21503 P' Mark <l Previous > Next r n L J Full Screen © Tutorial i Lab Values =* Notes Calculator Reverse Color CEA ) Text Zoom i§! Settings A ( Choice C ) Glycogenstoragediseasescause defectivemetabolismof glycogenin the liverand/or , growthretardation, , lacticacidosis, hepatomegaly muscles. The presentationcan includehypoglycemia and/or musclefatigue/cramping. Cardiomegalycan occurwith Pompe disease, but cornealcloudingis not a feature. ( Choice E) Niemann-Pick disease resultsfrom a deficiencyof sphingomyelinase , whichleads to the accumulationof sphingomyelinwithinphagocytes. This disease is characterizedby hepatosplenomegaly and progressiveneurologicdeterioration , but eye findingsincludea cherry-red spot on the macula, not cornealclouding. Educational objective : Hurler syndromeis a mucopolysaccharidosis caused by a deficiencyof alpha-L-iduronidase, which hydrolyzesdermatanand heparan sulfate. Accumulationof these substancesresultsin the characteristic , coarse facialfeatures, cornealclouding , and hepatosplenomegaly . Early featuresof intellectualdisability death due to cardiaccomplications(eg, myocardialinfarction) is expected. References • Early diseaseprogressionof Hurler syndrome. Block Time Remaining : 00:02: 05 TUTOR https://t.me/USMLEWorldStep1 i Suspend O EndBlock — Item 1 of 1 Question W: 21503 P' Mark <l Previous > Next rn L J Full Screen © Tutorial i Lab Values =* Notes Calculator Reverse Color CEA) Text Zoom i§! Settings A ( Choice C ) Glycogen storage diseases cause defective metabolism of glycogen in the liver and/or muscles. The presentation can include hypoglycemia, lactic acidosis, hepatomegaly, growth retardation, and/or muscle fatigue/cramping. Cardiomegaly can occur with Pompe disease, but corneal clouding is not a feature. ( Choice E) Niemann-Pick disease results from a deficiency of sphingomyelinase, which leads to the accumulation of sphingomyelin within phagocytes. This disease is characterized by hepatosplenomegaly and progressive neurologic deterioration, but eye findings include a cherry-red spot on the macula, not corneal clouding. Educational objective: Hurler syndrome is a mucopolysaccharidosis caused by a deficiency of alpha-L-iduronidase, which hydrolyzes dermatan and heparan sulfate. Accumulation of these substances results in the characteristic features of intellectual disability, coarse facial features, corneal clouding, and hepatosplenomegaly. Early death due to cardiac complications (eg, myocardial infarction) is expected. References • Early disease progression of Hurler syndrome. Block Time Remaining: 00:02:05 TUTOR https://t.me/USMLEWorldStep1 i Suspend O End Block — Item1 of1 QuestionW :21503 P'Mark <l Previous > Next r n L J Full Screen © Tutorial i Lab Values =* Notes Calculator Reverse Color CEA ) Text Zoom §! i Settings A (ChoiceC ) Glycogen storage diseases cause defective metabolism of glycogen in the liver and/or muscles. The presentation can include hypoglycemia, lactic acidosis, hepatomegaly, growth retardation, and/or muscle fatigue/cramping. Cardiomegaly can occur with Pompe disease, but corneal clouding is not a feature. (Choice E ) Niemann-Pick disease results from a deficiency of sphingomyelinase, which leads to the accumulation of sphingomyelin within phagocytes. This disease is characterized by hepatosplenomegaly and progressive neurologic deterioration, but eye findings include a cherry-red spot on the macula, not corneal clouding. Educational objective : Hurler syndrome is a mucopolysaccharidosis caused by a deficiency of alpha-L-iduronidase, which hydrolyzes dermatan and heparan sulfate. Accumulation of these substances results in the characteristic features of intellectual disability, coarse facial features, corneal clouding, and hepatosplenomegaly. Early death due to cardiac complications (eg, myocardial infarction) is expected. References • Early disease progression of Hurler syndrome. Block Time Remaining:00:02:05 TUTOR https://t.me/USMLEWorldStep1 i Suspend O End Block — Item 1 of 1 Question W: 21503 P' Mark <l Previous > Next rn L J Full Screen © Tutorial i Lab Values =* Notes Calculator Reverse Color CEA) Text Zoom i§! Settings A ( Choice C ) Glycogen storage diseases cause defective metabolism of glycogen in the liver and/or muscles. The presentation can include hypoglycemia, lactic acidosis, hepatomegaly, growth retardation, and/or muscle fatigue/cramping. Cardiomegaly can occur with Pompe disease, but corneal clouding is not a feature. ( Choice E) Niemann-Pick disease results from a deficiency of sphingomyelinase, which leads to the accumulation of sphingomyelin within phagocytes. This disease is characterized by hepatosplenomegaly and progressive neurologic deterioration, but eye findings include a cherry-red spot on the macula, not corneal clouding. Educational objective: Hurler syndrome is a mucopolysaccharidosis caused by a deficiency of alpha-L-iduronidase, which hydrolyzes dermatan and heparan sulfate. Accumulation of these substances results in the characteristic features of intellectual disability, coarse facial features, corneal clouding, and hepatosplenomegaly. Early death due to cardiac complications (eg, myocardial infarction) is expected. References • Early disease progression of Hurler syndrome. Block Time Remaining: 00:02:05 TUTOR https://t.me/USMLEWorldStep1 i Suspend O End Block — Item 1 of 1 Question W: 21503 P' Mark <l > Previous Next r n L J Full Screen © Tutorial i LabValues =* Notes Calculator ReverseColor CEA ) TextZoom i§! Settings A ( Choice C ) Glycogenstorage diseases ofglycogen intheliver causedefective metabolism and/or hypoglycemia ,growthretardation , . The presentation ,lactic muscles acidosis can include ,hepatomegaly /cramping canoccurwithPompe disease and/ormusclefatigue isnot ,butcorneal clouding . Cardiomegaly a feature . ( Choice E) Niemann-Pickdiseaseresults ,whichleadstothe froma deficiency ofsphingomyelinase accumulation ofsphingomyelin phagocytes by hepatosplenomegaly within . Thisdiseaseischaracterized neurologic a cherry and progressive deterioration include ,buteye findings -redspoton themacula,not clouding corneal . Educational objective : ,which syndromeisa mucopolysaccharidosis Hurler ofalpha causedby a deficiency -L-iduronidase hydrolyzes results ofthesesubstances dermatanand heparansulfate inthecharacteristic . Accumulation ofintellectual features ,coarsefacial disability clouding ,corneal ,and hepatosplenomegaly . Early features (eg,myocardial )isexpected complications deathdue tocardiac infarction . References ofHurler syndrome. • Earlydiseaseprogression Block Time Remaining : 00:02: 05 TUTOR https ://t.me /USMLEWorldStep1 i O Suspend End Block — Item 1 of 1 Question W: 21503 P' Mark <l Previous > Next r n L J Full Screen © Tutorial i Lab Values =* Notes Calculator Reverse Color CEA ) Text Zoom i§! Settings A ( Choice C ) Glycogenstoragediseasescause defectivemetabolismof glycogenin the liverand/or , growthretardation, , lacticacidosis, hepatomegaly muscles. The presentationcan includehypoglycemia and/or musclefatigue/cramping. Cardiomegalycan occurwith Pompe disease, but cornealcloudingis not a feature. ( Choice E) Niemann-Pick disease resultsfrom a deficiencyof sphingomyelinase , whichleads to the accumulationof sphingomyelinwithinphagocytes. This disease is characterizedby hepatosplenomegaly and progressiveneurologicdeterioration , but eye findingsincludea cherry-red spot on the macula, not cornealclouding. Educational objective : Hurler syndromeis a mucopolysaccharidosis caused by a deficiencyof alpha-L-iduronidase, which hydrolyzesdermatanand heparan sulfate. Accumulationof these substancesresultsin the characteristic , coarse facialfeatures, cornealclouding , and hepatosplenomegaly . Early featuresof intellectualdisability death due to cardiaccomplications(eg, myocardialinfarction) is expected. References • Early diseaseprogressionof Hurler syndrome. Block Time Remaining : 00:02: 05 TUTOR https://t.me/USMLEWorldStep1 i Suspend O EndBlock — Item 1 of 1 Question W: 21503 P' Mark <l > Previous Next r n L J Full Screen © Tutorial i LabValues =* Notes Calculator ReverseColor CEA) TextZoom i§! Settings A ( Choice C ) Glycogenstorage diseases ofglycogen intheliver causedefective metabolism and/or hypoglycemia ,growthretardation , . The presentation ,lactic muscles acidosis can include ,hepatomegaly /cramping canoccurwithPompe disease and/ormusclefatigue isnot ,butcorneal clouding . Cardiomegaly a feature . ( Choice E) Niemann-Pickdiseaseresults ,whichleadstothe froma deficiency ofsphingomyelinase accumulation ofsphingomyelin phagocytes by hepatosplenomegaly within . Thisdiseaseischaracterized neurologic a cherry and progressive deterioration include ,buteye findings -redspoton themacula,not clouding corneal . Educational objective: ,which syndromeisa mucopolysaccharidosis Hurler ofalpha causedby a deficiency -L-iduronidase hydrolyzes results ofthesesubstances dermatanand heparansulfate inthecharacteristic . Accumulation ofintellectual features ,coarsefacial disability clouding ,corneal ,and hepatosplenomegaly . Early features (eg,myocardial )isexpected complications deathdue tocardiac infarction . References ofHurler syndrome. • Earlydiseaseprogression Block Time Remaining: 00:02:05 TUTOR https ://t.me /USMLEWorldStep1 i O Suspend End Block — Item1 of1 QuestionW :21503 P'Mark <l Previous > Next r n L J Full Screen © Tutorial i Lab Values =* Notes Calculator Reverse Color CEA ) Text Zoom §! i Settings A (ChoiceC ) Glycogen storage diseases cause defective metabolism of glycogen in the liver and/or muscles. The presentation can include hypoglycemia, lactic acidosis, hepatomegaly, growth retardation, and/or muscle fatigue/cramping. Cardiomegaly can occur with Pompe disease, but corneal clouding is not a feature. (Choice E ) Niemann-Pick disease results from a deficiency of sphingomyelinase, which leads to the accumulation of sphingomyelin within phagocytes. This disease is characterized by hepatosplenomegaly and progressive neurologic deterioration, but eye findings include a cherry-red spot on the macula, not corneal clouding. Educational objective : Hurler syndrome is a mucopolysaccharidosis caused by a deficiency of alpha-L-iduronidase, which hydrolyzes dermatan and heparan sulfate. Accumulation of these substances results in the characteristic features of intellectual disability, coarse facial features, corneal clouding, and hepatosplenomegaly. Early death due to cardiac complications (eg, myocardial infarction) is expected. References • Early disease progression of Hurler syndrome. Block Time Remaining:00:02:05 TUTOR https://t.me/USMLEWorldStep1 i Suspend O End Block — Item1 of1 QuestionW :21503 P'Mark <l Previous > Next r n L J Full Screen © Tutorial i Lab Values =* Notes Calculator Reverse Color CEA ) Text Zoom §! i Settings A (ChoiceC ) Glycogen storage diseases cause defective metabolism of glycogen in the liver and/or muscles. The presentation can include hypoglycemia, lactic acidosis, hepatomegaly, growth retardation, and/or muscle fatigue/cramping. Cardiomegaly can occur with Pompe disease, but corneal clouding is not a feature. (Choice E ) Niemann-Pick disease results from a deficiency of sphingomyelinase, which leads to the accumulation of sphingomyelin within phagocytes. This disease is characterized by hepatosplenomegaly and progressive neurologic deterioration, but eye findings include a cherry-red spot on the macula, not corneal clouding. Educational objective : Hurler syndrome is a mucopolysaccharidosis caused by a deficiency of alpha-L-iduronidase, which hydrolyzes dermatan and heparan sulfate. Accumulation of these substances results in the characteristic features of intellectual disability, coarse facial features, corneal clouding, and hepatosplenomegaly. Early death due to cardiac complications (eg, myocardial infarction) is expected. References • Early disease progression of Hurler syndrome. Block Time Remaining:00:02:05 TUTOR https://t.me/USMLEWorldStep1 i Suspend O End Block — Item1 of1 QuestionW :21503 P'Mark <l Previous > Next r n L J Full Screen © Tutorial i Lab Values =* Notes Calculator Reverse Color CEA ) Text Zoom §! i Settings A (ChoiceC ) Glycogenstoragediseasescause defectivemetabolismof glycogenin the liverand/or , growthretardation, , lacticacidosis, hepatomegaly muscles. The presentationcan includehypoglycemia and/or musclefatigue/cramping. Cardiomegalycan occurwith Pompe disease, but cornealcloudingis not a feature. (Choice E ) Niemann-Pick disease resultsfrom a deficiencyof sphingomyelinase , whichleads to the accumulationof sphingomyelinwithinphagocytes. This disease is characterizedby hepatosplenomegaly and progressiveneurologicdeterioration , but eye findingsincludea cherry-red spot on the macula, not cornealclouding. Educational objective : Hurler syndromeis a mucopolysaccharidosis caused by a deficiencyof alpha-L-iduronidase, which hydrolyzesdermatanand heparan sulfate. Accumulationof these substancesresultsin the characteristic , coarse facialfeatures, cornealclouding , and hepatosplenomegaly . Early featuresof intellectualdisability death due to cardiaccomplications(eg, myocardialinfarction) is expected. References • Early diseaseprogressionof Hurler syndrome. Block Time Remaining:00:02:05 TUTOR https://t.me/USMLEWorldStep1 i Suspend O EndBlock — Item 1 of 1 Question W: 21503 P' Mark <l Previous > Next r n L J Full Screen © Tutorial i Lab Values =* Notes Calculator Reverse Color CEA ) Text Zoom i§! Settings A ( Choice C ) Glycogenstoragediseasescause defectivemetabolismof glycogenin the liverand/or , growthretardation, , lacticacidosis, hepatomegaly muscles. The presentationcan includehypoglycemia and/or musclefatigue/cramping. Cardiomegalycan occurwith Pompe disease, but cornealcloudingis not a feature. ( Choice E) Niemann-Pick disease resultsfrom a deficiencyof sphingomyelinase , whichleads to the accumulationof sphingomyelinwithinphagocytes. This disease is characterizedby hepatosplenomegaly and progressiveneurologicdeterioration , but eye findingsincludea cherry-red spot on the macula, not cornealclouding. Educational objective : Hurler syndromeis a mucopolysaccharidosis caused by a deficiencyof alpha-L-iduronidase, which hydrolyzesdermatanand heparan sulfate. Accumulationof these substancesresultsin the characteristic , coarse facialfeatures, cornealclouding , and hepatosplenomegaly . Early featuresof intellectualdisability death due to cardiaccomplications(eg, myocardialinfarction) is expected. References • Early diseaseprogressionof Hurler syndrome. Block Time Remaining : 00:02: 05 TUTOR https://t.me/USMLEWorldStep1 i Suspend O EndBlock — Item 1 of 1 Question W: 21503 P' Mark <l Previous > Next r n L J Full Screen © Tutorial i Lab Values =* Notes Calculator Reverse Color CEA ) Text Zoom i§! Settings A ( Choice C ) Glycogenstoragediseasescause defectivemetabolismof glycogenin the liverand/or , growthretardation, , lacticacidosis, hepatomegaly muscles. The presentationcan includehypoglycemia and/or musclefatigue/cramping. Cardiomegalycan occurwith Pompe disease, but cornealcloudingis not a feature. ( Choice E) Niemann-Pick disease resultsfrom a deficiencyof sphingomyelinase , whichleads to the accumulationof sphingomyelinwithinphagocytes. This disease is characterizedby hepatosplenomegaly and progressiveneurologicdeterioration , but eye findingsincludea cherry-red spot on the macula, not cornealclouding. Educational objective : Hurler syndromeis a mucopolysaccharidosis caused by a deficiencyof alpha-L-iduronidase, which hydrolyzesdermatanand heparan sulfate. Accumulationof these substancesresultsin the characteristic , coarse facialfeatures, cornealclouding , and hepatosplenomegaly . Early featuresof intellectualdisability death due to cardiaccomplications(eg, myocardialinfarction) is expected. References • Early diseaseprogressionof Hurler syndrome. Block Time Remaining : 00:02: 05 TUTOR https://t.me/USMLEWorldStep1 i Suspend O EndBlock — Item 1 of 1 Question W: 21503 P' Mark <l Previous > Next rn L J Full Screen © Tutorial i Lab Values =* Notes Calculator Reverse Color CEA ) Text Zoom i§! Settings A ( Choice C ) Glycogenstoragediseasescause defectivemetabolismof glycogenin the liverand/or , growthretardation, , lacticacidosis, hepatomegaly muscles. The presentationcan includehypoglycemia and/or musclefatigue/cramping. Cardiomegalycan occurwith Pompe disease, but cornealcloudingis not a feature. ( Choice E) Niemann-Pick disease resultsfrom a deficiencyof sphingomyelinase , whichleads to the accumulationof sphingomyelinwithinphagocytes. This disease is characterizedby hepatosplenomegaly and progressiveneurologicdeterioration , but eye findingsincludea cherry-red spot on the macula, not cornealclouding. Educational objective : Hurler syndromeis a mucopolysaccharidosis caused by a deficiencyof alpha-L-iduronidase, which hydrolyzesdermatanand heparan sulfate. Accumulationof these substancesresultsin the characteristic , coarse facialfeatures, cornealclouding , and hepatosplenomegaly . Early featuresof intellectualdisability death due to cardiaccomplications(eg, myocardialinfarction) is expected. References • Early diseaseprogressionof Hurler syndrome. Block Time Remaining : 00:02: 05 TUTOR https://t.me/USMLEWorldStep1 i Suspend O EndBlock — Item 1 of 1 Question W: 21503 P' Mark <l Previous > Next r n L J Full Screen © Tutorial i Lab Values =* Notes Calculator Reverse Color CEA ) Text Zoom i§! Settings A ( Choice C ) Glycogenstoragediseasescause defectivemetabolismof glycogenin the liverand/or , growthretardation, , lacticacidosis, hepatomegaly muscles. The presentationcan includehypoglycemia and/or musclefatigue/cramping. Cardiomegalycan occurwith Pompe disease, but cornealcloudingis not a feature. ( Choice E) Niemann-Pick disease resultsfrom a deficiencyof sphingomyelinase , whichleads to the accumulationof sphingomyelinwithinphagocytes. This disease is characterizedby hepatosplenomegaly and progressiveneurologicdeterioration , but eye findingsincludea cherry-red spot on the macula, not cornealclouding. Educational objective : Hurler syndromeis a mucopolysaccharidosis caused by a deficiencyof alpha-L-iduronidase, which hydrolyzesdermatanand heparan sulfate. Accumulationof these substancesresultsin the characteristic , coarse facialfeatures, cornealclouding , and hepatosplenomegaly . Early featuresof intellectualdisability death due to cardiaccomplications(eg, myocardialinfarction) is expected. References • Early diseaseprogressionof Hurler syndrome. Block Time Remaining : 00:02: 05 TUTOR https://t.me/USMLEWorldStep1 i Suspend O EndBlock — Item1 of1 QuestionW :21503 P'Mark <l Previous > Next r n L J Full Screen © Tutorial i Lab Values =* Notes Calculator Reverse Color CEA ) Text Zoom §! i Settings A (ChoiceC ) Glycogenstoragediseasescause defectivemetabolismof glycogenin the liverand/or , growthretardation, , lacticacidosis, hepatomegaly muscles. The presentationcan includehypoglycemia and/or musclefatigue/cramping. Cardiomegalycan occurwith Pompe disease, but cornealcloudingis not a feature. (Choice E ) Niemann-Pick disease resultsfrom a deficiencyof sphingomyelinase , whichleads to the accumulationof sphingomyelinwithinphagocytes. This disease is characterizedby hepatosplenomegaly and progressiveneurologicdeterioration , but eye findingsincludea cherry-red spot on the macula, not cornealclouding. Educational objective : Hurler syndromeis a mucopolysaccharidosis caused by a deficiencyof alpha-L-iduronidase, which hydrolyzesdermatanand heparan sulfate. Accumulationof these substancesresultsin the characteristic , coarse facialfeatures, cornealclouding , and hepatosplenomegaly . Early featuresof intellectualdisability death due to cardiaccomplications(eg, myocardialinfarction) is expected. References • Early diseaseprogressionof Hurler syndrome. Block Time Remaining:00:02:05 TUTOR https://t.me/USMLEWorldStep1 i Suspend O EndBlock — Item 1 of 1 Question W: 21503 P' Mark <l Previous > Next rn L J Full Screen © Tutorial i Lab Values =* Notes Calculator Reverse Color CEA) Text Zoom i§! Settings A ( Choice C ) Glycogen storage diseases cause defective metabolism of glycogen in the liver and/or muscles. The presentation can include hypoglycemia, lactic acidosis, hepatomegaly, growth retardation, and/or muscle fatigue/cramping. Cardiomegaly can occur with Pompe disease, but corneal clouding is not a feature. ( Choice E) Niemann-Pick disease results from a deficiency of sphingomyelinase, which leads to the accumulation of sphingomyelin within phagocytes. This disease is characterized by hepatosplenomegaly and progressive neurologic deterioration, but eye findings include a cherry-red spot on the macula, not corneal clouding. Educational objective: Hurler syndrome is a mucopolysaccharidosis caused by a deficiency of alpha-L-iduronidase, which hydrolyzes dermatan and heparan sulfate. Accumulation of these substances results in the characteristic features of intellectual disability, coarse facial features, corneal clouding, and hepatosplenomegaly. Early death due to cardiac complications (eg, myocardial infarction) is expected. References • Early disease progression of Hurler syndrome. Block Time Remaining: 00:02:05 TUTOR https://t.me/USMLEWorldStep1 i Suspend O End Block — Item 1 of 1 Question W: 21503 P' Mark <l Previous > Next rn L J Full Screen © Tutorial i Lab Values =* Notes Calculator Reverse Color CEA) Text Zoom i§! Settings A ( Choice C ) Glycogen storage diseases cause defective metabolism of glycogen in the liver and/or muscles. The presentation can include hypoglycemia, lactic acidosis, hepatomegaly, growth retardation, and/or muscle fatigue/cramping. Cardiomegaly can occur with Pompe disease, but corneal clouding is not a feature. ( Choice E) Niemann-Pick disease results from a deficiency of sphingomyelinase, which leads to the accumulation of sphingomyelin within phagocytes. This disease is characterized by hepatosplenomegaly and progressive neurologic deterioration, but eye findings include a cherry-red spot on the macula, not corneal clouding. Educational objective: Hurler syndrome is a mucopolysaccharidosis caused by a deficiency of alpha-L-iduronidase, which hydrolyzes dermatan and heparan sulfate. Accumulation of these substances results in the characteristic features of intellectual disability, coarse facial features, corneal clouding, and hepatosplenomegaly. Early death due to cardiac complications (eg, myocardial infarction) is expected. References • Early disease progression of Hurler syndrome. Block Time Remaining: 00:02:05 TUTOR https://t.me/USMLEWorldStep1 i Suspend O End Block — Item1 of1 QuestionW :21503 P'Mark <l Previous > Next r n L J Full Screen © Tutorial i Lab Values =* Notes Calculator Reverse Color CEA ) Text Zoom §! i Settings A (ChoiceC ) Glycogenstoragediseasescause defectivemetabolismof glycogenin the liverand/or , growthretardation, , lacticacidosis, hepatomegaly muscles. The presentationcan includehypoglycemia and/or musclefatigue/cramping. Cardiomegalycan occurwith Pompe disease, but cornealcloudingis not a feature. (Choice E ) Niemann-Pick disease resultsfrom a deficiencyof sphingomyelinase , whichleads to the accumulationof sphingomyelinwithinphagocytes. This disease is characterizedby hepatosplenomegaly and progressiveneurologicdeterioration , but eye findingsincludea cherry-red spot on the macula, not cornealclouding. Educational objective : Hurler syndromeis a mucopolysaccharidosis caused by a deficiencyof alpha-L-iduronidase, which hydrolyzesdermatanand heparan sulfate. Accumulationof these substancesresultsin the characteristic , coarse facialfeatures, cornealclouding , and hepatosplenomegaly . Early featuresof intellectualdisability death due to cardiaccomplications(eg, myocardialinfarction) is expected. References • Early diseaseprogressionof Hurler syndrome. Block Time Remaining:00:02:05 TUTOR https://t.me/USMLEWorldStep1 i Suspend O EndBlock — Item1 of1 QuestionW :21503 P'Mark <l Previous > Next r n L J Full Screen © Tutorial i Lab Values =* Notes Calculator Reverse Color CEA ) Text Zoom §! i Settings A (ChoiceC ) Glycogen storage diseases cause defective metabolism of glycogen in the liver and/or muscles. The presentation can include hypoglycemia, lactic acidosis, hepatomegaly, growth retardation, and/or muscle fatigue/cramping. Cardiomegaly can occur with Pompe disease, but corneal clouding is not a feature. (Choice E ) Niemann-Pick disease results from a deficiency of sphingomyelinase, which leads to the accumulation of sphingomyelin within phagocytes. This disease is characterized by hepatosplenomegaly and progressive neurologic deterioration, but eye findings include a cherry-red spot on the macula, not corneal clouding. Educational objective : Hurler syndrome is a mucopolysaccharidosis caused by a deficiency of alpha-L-iduronidase, which hydrolyzes dermatan and heparan sulfate. Accumulation of these substances results in the characteristic features of intellectual disability, coarse facial features, corneal clouding, and hepatosplenomegaly. Early death due to cardiac complications (eg, myocardial infarction) is expected. References • Early disease progression of Hurler syndrome. Block Time Remaining:00:02:05 TUTOR https://t.me/USMLEWorldStep1 i Suspend O End Block — Item 1 of 1 Question W: 21503 P' Mark <l Previous > Next r n L J Full Screen © Tutorial i Lab Values =* Notes Calculator Reverse Color CEA ) Text Zoom i§! Settings A ( Choice C ) Glycogenstoragediseasescause defectivemetabolismof glycogenin the liverand/or , growthretardation, , lacticacidosis, hepatomegaly muscles. The presentationcan includehypoglycemia and/or musclefatigue/cramping. Cardiomegalycan occurwith Pompe disease, but cornealcloudingis not a feature. ( Choice E) Niemann-Pick disease resultsfrom a deficiencyof sphingomyelinase , whichleads to the accumulationof sphingomyelinwithinphagocytes. This disease is characterizedby hepatosplenomegaly and progressiveneurologicdeterioration , but eye findingsincludea cherry-red spot on the macula, not cornealclouding. Educational objective : Hurler syndromeis a mucopolysaccharidosis caused by a deficiencyof alpha-L-iduronidase, which hydrolyzesdermatanand heparan sulfate. Accumulationof these substancesresultsin the characteristic , coarse facialfeatures, cornealclouding , and hepatosplenomegaly . Early featuresof intellectualdisability death due to cardiaccomplications(eg, myocardialinfarction) is expected. References • Early diseaseprogressionof Hurler syndrome. Block Time Remaining : 00:02: 05 TUTOR https://t.me/USMLEWorldStep1 i Suspend O EndBlock — Item1 of1 QuestionW :21503 P'Mark <l Previous > Next r n L J Full Screen © Tutorial i Lab Values =* Notes Calculator Reverse Color CEA ) Text Zoom §! i Settings A (ChoiceC ) Glycogen storage diseases cause defective metabolism of glycogen in the liver and/or muscles. The presentation can include hypoglycemia, lactic acidosis, hepatomegaly, growth retardation, and/or muscle fatigue/cramping. Cardiomegaly can occur with Pompe disease, but corneal clouding is not a feature. (Choice E ) Niemann-Pick disease results from a deficiency of sphingomyelinase, which leads to the accumulation of sphingomyelin within phagocytes. This disease is characterized by hepatosplenomegaly and progressive neurologic deterioration, but eye findings include a cherry-red spot on the macula, not corneal clouding. Educational objective : Hurler syndrome is a mucopolysaccharidosis caused by a deficiency of alpha-L-iduronidase, which hydrolyzes dermatan and heparan sulfate. Accumulation of these substances results in the characteristic features of intellectual disability, coarse facial features, corneal clouding, and hepatosplenomegaly. Early death due to cardiac complications (eg, myocardial infarction) is expected. References • Early disease progression of Hurler syndrome. Block Time Remaining:00:02:05 TUTOR https://t.me/USMLEWorldStep1 i Suspend O End Block — Item1 of1 QuestionW :21503 P'Mark <l Previous > Next r n L J Full Screen © Tutorial i Lab Values =* Notes Calculator Reverse Color CEA ) Text Zoom §! i Settings A (ChoiceC ) Glycogenstoragediseasescause defectivemetabolismof glycogenin the liverand/or , growthretardation, , lacticacidosis, hepatomegaly muscles. The presentationcan includehypoglycemia and/or musclefatigue/cramping. Cardiomegalycan occurwith Pompe disease, but cornealcloudingis not a feature. (Choice E ) Niemann-Pick disease resultsfrom a deficiencyof sphingomyelinase , whichleads to the accumulationof sphingomyelinwithinphagocytes. This disease is characterizedby hepatosplenomegaly and progressiveneurologicdeterioration , but eye findingsincludea cherry-red spot on the macula, not cornealclouding. Educational objective : Hurler syndromeis a mucopolysaccharidosis caused by a deficiencyof alpha-L-iduronidase, which hydrolyzesdermatanand heparan sulfate. Accumulationof these substancesresultsin the characteristic , coarse facialfeatures, cornealclouding , and hepatosplenomegaly . Early featuresof intellectualdisability death due to cardiaccomplications(eg, myocardialinfarction) is expected. References • Early diseaseprogressionof Hurler syndrome. Block Time Remaining:00:02:05 TUTOR https://t.me/USMLEWorldStep1 i Suspend O EndBlock — Item 1 of 1 Question W: 21503 P' Mark <l Previous > Next rn L J Full Screen © Tutorial i Lab Values =* Notes Calculator Reverse Color CEA) Text Zoom i§! Settings A ( Choice C ) Glycogen storage diseases cause defective metabolism of glycogen in the liver and/or muscles. The presentation can include hypoglycemia, lactic acidosis, hepatomegaly, growth retardation, and/or muscle fatigue/cramping. Cardiomegaly can occur with Pompe disease, but corneal clouding is not a feature. ( Choice E) Niemann-Pick disease results from a deficiency of sphingomyelinase, which leads to the accumulation of sphingomyelin within phagocytes. This disease is characterized by hepatosplenomegaly and progressive neurologic deterioration, but eye findings include a cherry-red spot on the macula, not corneal clouding. Educational objective: Hurler syndrome is a mucopolysaccharidosis caused by a deficiency of alpha-L-iduronidase, which hydrolyzes dermatan and heparan sulfate. Accumulation of these substances results in the characteristic features of intellectual disability, coarse facial features, corneal clouding, and hepatosplenomegaly. Early death due to cardiac complications (eg, myocardial infarction) is expected. References • Early disease progression of Hurler syndrome. Block Time Remaining: 00:02:05 TUTOR https://t.me/USMLEWorldStep1 i Suspend O End Block — Item 1 of 1 Question W: 21503 P' Mark <l Previous > Next rn L J Full Screen © Tutorial i Lab Values =* Notes Calculator Reverse Color CEA) Text Zoom i§! Settings A ( Choice C ) Glycogen storage diseases cause defective metabolism of glycogen in the liver and/or muscles. The presentation can include hypoglycemia, lactic acidosis, hepatomegaly, growth retardation, and/or muscle fatigue/cramping. Cardiomegaly can occur with Pompe disease, but corneal clouding is not a feature. ( Choice E) Niemann-Pick disease results from a deficiency of sphingomyelinase, which leads to the accumulation of sphingomyelin within phagocytes. This disease is characterized by hepatosplenomegaly and progressive neurologic deterioration, but eye findings include a cherry-red spot on the macula, not corneal clouding. Educational objective: Hurler syndrome is a mucopolysaccharidosis caused by a deficiency of alpha-L-iduronidase, which hydrolyzes dermatan and heparan sulfate. Accumulation of these substances results in the characteristic features of intellectual disability, coarse facial features, corneal clouding, and hepatosplenomegaly. Early death due to cardiac complications (eg, myocardial infarction) is expected. References • Early disease progression of Hurler syndrome. Block Time Remaining: 00:02:05 TUTOR https://t.me/USMLEWorldStep1 i Suspend O End Block — Item1 of1 QuestionW :21503 P'Mark <l Previous > Next r n L J Full Screen © Tutorial i Lab Values =* Notes Calculator Reverse Color CEA ) Text Zoom §! i Settings A (ChoiceC ) Glycogen storage diseases cause defective metabolism of glycogen in the liver and/or muscles. The presentation can include hypoglycemia, lactic acidosis, hepatomegaly, growth retardation, and/or muscle fatigue/cramping. Cardiomegaly can occur with Pompe disease, but corneal clouding is not a feature. (Choice E ) Niemann-Pick disease results from a deficiency of sphingomyelinase, which leads to the accumulation of sphingomyelin within phagocytes. This disease is characterized by hepatosplenomegaly and progressive neurologic deterioration, but eye findings include a cherry-red spot on the macula, not corneal clouding. Educational objective : Hurler syndrome is a mucopolysaccharidosis caused by a deficiency of alpha-L-iduronidase, which hydrolyzes dermatan and heparan sulfate. Accumulation of these substances results in the characteristic features of intellectual disability, coarse facial features, corneal clouding, and hepatosplenomegaly. Early death due to cardiac complications (eg, myocardial infarction) is expected. References • Early disease progression of Hurler syndrome. Block Time Remaining:00:02:05 TUTOR https://t.me/USMLEWorldStep1 i Suspend O End Block — Item 1 of 1 Question W: 21503 P' Mark <l Previous > Next r n L J Full Screen © Tutorial i Lab Values =* Notes Calculator Reverse Color CEA ) Text Zoom i§! Settings A ( Choice C ) Glycogen storage diseases cause defective metabolism of glycogen in the liver and/or muscles. The presentation can include hypoglycemia, lactic acidosis, hepatomegaly, growth retardation, and/or muscle fatigue/cramping. Cardiomegaly can occur with Pompe disease, but corneal clouding is not a feature. ( Choice E) Niemann-Pick disease results from a deficiency of sphingomyelinase, which leads to the accumulation of sphingomyelin within phagocytes. This disease is characterized by hepatosplenomegaly and progressive neurologic deterioration, but eye findings include a cherry-red spot on the macula, not corneal clouding. Educational objective : Hurler syndrome is a mucopolysaccharidosis caused by a deficiency of alpha-L-iduronidase, which hydrolyzes dermatan and heparan sulfate. Accumulation of these substances results in the characteristic features of intellectual disability, coarse facial features, corneal clouding, and hepatosplenomegaly. Early death due to cardiac complications (eg, myocardial infarction) is expected. References • Early disease progression of Hurler syndrome. Block Time Remaining : 00:02: 05 TUTOR https://t.me/USMLEWorldStep1 i Suspend O End Block — Item1 of1 QuestionW :21503 P'Mark <l Previous > Next r n L J Full Screen © Tutorial i Lab Values =* Notes Calculator Reverse Color CEA ) Text Zoom §! i Settings A (ChoiceC ) Glycogenstoragediseasescause defectivemetabolismof glycogenin the liverand/or , growthretardation, , lacticacidosis, hepatomegaly muscles. The presentationcan includehypoglycemia and/or musclefatigue/cramping. Cardiomegalycan occurwith Pompe disease, but cornealcloudingis not a feature. (Choice E ) Niemann-Pick disease resultsfrom a deficiencyof sphingomyelinase , whichleads to the accumulationof sphingomyelinwithinphagocytes. This disease is characterizedby hepatosplenomegaly and progressiveneurologicdeterioration , but eye findingsincludea cherry-red spot on the macula, not cornealclouding. Educational objective : Hurler syndromeis a mucopolysaccharidosis caused by a deficiencyof alpha-L-iduronidase, which hydrolyzesdermatanand heparan sulfate. Accumulationof these substancesresultsin the characteristic , coarse facialfeatures, cornealclouding , and hepatosplenomegaly . Early featuresof intellectualdisability death due to cardiaccomplications(eg, myocardialinfarction) is expected. References • Early diseaseprogressionof Hurler syndrome. Block Time Remaining:00:02:05 TUTOR https://t.me/USMLEWorldStep1 i Suspend O EndBlock — Item1 of1 QuestionW :21503 P'Mark <l Previous > Next r n L J Full Screen © Tutorial i Lab Values =* Notes Calculator Reverse Color CEA ) Text Zoom §! i Settings A (ChoiceC ) Glycogenstoragediseasescause defectivemetabolismof glycogenin the liverand/or , growthretardation, , lacticacidosis, hepatomegaly muscles. The presentationcan includehypoglycemia and/or musclefatigue/cramping. Cardiomegalycan occurwith Pompe disease, but cornealcloudingis not a feature. (Choice E ) Niemann-Pick disease resultsfrom a deficiencyof sphingomyelinase , whichleads to the accumulationof sphingomyelinwithinphagocytes. This disease is characterizedby hepatosplenomegaly and progressiveneurologicdeterioration , but eye findingsincludea cherry-red spot on the macula, not cornealclouding. Educational objective : Hurler syndromeis a mucopolysaccharidosis caused by a deficiencyof alpha-L-iduronidase, which hydrolyzesdermatanand heparan sulfate. Accumulationof these substancesresultsin the characteristic , coarse facialfeatures, cornealclouding , and hepatosplenomegaly . Early featuresof intellectualdisability death due to cardiaccomplications(eg, myocardialinfarction) is expected. References • Early diseaseprogressionof Hurler syndrome. Block Time Remaining:00:02:05 TUTOR https://t.me/USMLEWorldStep1 i Suspend O EndBlock — Item1 of1 QuestionW :21503 P'Mark <l Previous > Next r n L J Full Screen © Tutorial i Lab Values =* Notes Calculator Reverse Color CEA ) Text Zoom §! i Settings A (ChoiceC ) Glycogenstoragediseasescause defectivemetabolismof glycogenin the liverand/or , growthretardation, , lacticacidosis, hepatomegaly muscles. The presentationcan includehypoglycemia and/or musclefatigue/cramping. Cardiomegalycan occurwith Pompe disease, but cornealcloudingis not a feature. (Choice E ) Niemann-Pick disease resultsfrom a deficiencyof sphingomyelinase , whichleads to the accumulationof sphingomyelinwithinphagocytes. This disease is characterizedby hepatosplenomegaly and progressiveneurologicdeterioration , but eye findingsincludea cherry-red spot on the macula, not cornealclouding. Educational objective : Hurler syndromeis a mucopolysaccharidosis caused by a deficiencyof alpha-L-iduronidase, which hydrolyzesdermatanand heparan sulfate. Accumulationof these substancesresultsin the characteristic , coarse facialfeatures, cornealclouding , and hepatosplenomegaly . Early featuresof intellectualdisability death due to cardiaccomplications(eg, myocardialinfarction) is expected. References • Early diseaseprogressionof Hurler syndrome. Block Time Remaining:00:02:05 TUTOR https://t.me/USMLEWorldStep1 i Suspend O EndBlock — Item 1 of 1 Question W: 21503 P' Mark <l > Previous Next r n L J Full Screen © Tutorial i LabValues =* Notes Calculator ReverseColor CEA ) TextZoom i§! Settings A ( Choice C ) Glycogenstorage diseases ofglycogen intheliver causedefective metabolism and/or hypoglycemia ,growthretardation , . The presentation ,lactic muscles acidosis can include ,hepatomegaly /cramping canoccurwithPompe disease and/ormusclefatigue isnot ,butcorneal clouding . Cardiomegaly a feature . ( Choice E) Niemann-Pickdiseaseresults ,whichleadstothe froma deficiency ofsphingomyelinase accumulation ofsphingomyelin phagocytes by hepatosplenomegaly within . Thisdiseaseischaracterized neurologic a cherry and progressive deterioration include ,buteye findings -redspoton themacula,not clouding corneal . Educational objective : ,which syndromeisa mucopolysaccharidosis Hurler ofalpha causedby a deficiency -L-iduronidase hydrolyzes results ofthesesubstances dermatanand heparansulfate inthecharacteristic . Accumulation ofintellectual features ,coarsefacial disability clouding ,corneal ,and hepatosplenomegaly . Early features (eg,myocardial )isexpected complications deathdue tocardiac infarction . References ofHurler syndrome. • Earlydiseaseprogression Block Time Remaining : 00:02: 05 TUTOR https ://t.me /USMLEWorldStep1 i O Suspend End Block — Item 1 of 1 Question W: 21503 P' Mark <l Previous > Next r n L J Full Screen © Tutorial i Lab Values =* Notes Calculator Reverse Color CEA ) Text Zoom i§! Settings A ( Choice C ) Glycogenstoragediseasescause defectivemetabolismof glycogenin the liverand/or , growthretardation, , lacticacidosis, hepatomegaly muscles. The presentationcan includehypoglycemia and/or musclefatigue/cramping. Cardiomegalycan occurwith Pompe disease, but cornealcloudingis not a feature. ( Choice E) Niemann-Pick disease resultsfrom a deficiencyof sphingomyelinase , whichleads to the accumulationof sphingomyelinwithinphagocytes. This disease is characterizedby hepatosplenomegaly and progressiveneurologicdeterioration , but eye findingsincludea cherry-red spot on the macula, not cornealclouding. Educational objective : Hurler syndromeis a mucopolysaccharidosis caused by a deficiencyof alpha-L-iduronidase, which hydrolyzesdermatanand heparan sulfate. Accumulationof these substancesresultsin the characteristic , coarse facialfeatures, cornealclouding , and hepatosplenomegaly . Early featuresof intellectualdisability death due to cardiaccomplications(eg, myocardialinfarction) is expected. References • Early diseaseprogressionof Hurler syndrome. Block Time Remaining : 00:02: 05 TUTOR https://t.me/USMLEWorldStep1 i Suspend O EndBlock — Item1 of1 QuestionW :21503 P'Mark <l Previous > Next r n L J Full Screen © Tutorial i Lab Values =* Notes Calculator Reverse Color CEA ) Text Zoom §! i Settings A (ChoiceC ) Glycogen storage diseases cause defective metabolism of glycogen in the liver and/or muscles. The presentation can include hypoglycemia, lactic acidosis, hepatomegaly, growth retardation, and/or muscle fatigue/cramping. Cardiomegaly can occur with Pompe disease, but corneal clouding is not a feature. (Choice E ) Niemann-Pick disease results from a deficiency of sphingomyelinase, which leads to the accumulation of sphingomyelin within phagocytes. This disease is characterized by hepatosplenomegaly and progressive neurologic deterioration, but eye findings include a cherry-red spot on the macula, not corneal clouding. Educational objective : Hurler syndrome is a mucopolysaccharidosis caused by a deficiency of alpha-L-iduronidase, which hydrolyzes dermatan and heparan sulfate. Accumulation of these substances results in the characteristic features of intellectual disability, coarse facial features, corneal clouding, and hepatosplenomegaly. Early death due to cardiac complications (eg, myocardial infarction) is expected. References • Early disease progression of Hurler syndrome. Block Time Remaining:00:02:05 TUTOR https://t.me/USMLEWorldStep1 i Suspend O End Block — Item1 of1 QuestionW :21503 P'Mark <l Previous > Next r n L J Full Screen © Tutorial i Lab Values =* Notes Calculator Reverse Color CEA ) Text Zoom §! i Settings A (ChoiceC ) Glycogenstoragediseasescause defectivemetabolismof glycogenin the liverand/or , growthretardation, , lacticacidosis, hepatomegaly muscles. The presentationcan includehypoglycemia and/or musclefatigue/cramping. Cardiomegalycan occurwith Pompe disease, but cornealcloudingis not a feature. (Choice E ) Niemann-Pick disease resultsfrom a deficiencyof sphingomyelinase , whichleads to the accumulationof sphingomyelinwithinphagocytes. This disease is characterizedby hepatosplenomegaly and progressiveneurologicdeterioration , but eye findingsincludea cherry-red spot on the macula, not cornealclouding. Educational objective : Hurler syndromeis a mucopolysaccharidosis caused by a deficiencyof alpha-L-iduronidase, which hydrolyzesdermatanand heparan sulfate. Accumulationof these substancesresultsin the characteristic , coarse facialfeatures, cornealclouding , and hepatosplenomegaly . Early featuresof intellectualdisability death due to cardiaccomplications(eg, myocardialinfarction) is expected. References • Early diseaseprogressionof Hurler syndrome. Block Time Remaining:00:02:05 TUTOR https://t.me/USMLEWorldStep1 i Suspend O EndBlock — Item 1 of 1 Question W: 21503 P' Mark <l Previous > Next rn L J Full Screen © Tutorial i Lab Values =* Notes Calculator Reverse Color CEA) Text Zoom i§! Settings A ( Choice C ) Glycogen storage diseases cause defective metabolism of glycogen in the liver and/or muscles. The presentation can include hypoglycemia, lactic acidosis, hepatomegaly, growth retardation, and/or muscle fatigue/cramping. Cardiomegaly can occur with Pompe disease, but corneal clouding is not a feature. ( Choice E) Niemann-Pick disease results from a deficiency of sphingomyelinase, which leads to the accumulation of sphingomyelin within phagocytes. This disease is characterized by hepatosplenomegaly and progressive neurologic deterioration, but eye findings include a cherry-red spot on the macula, not corneal clouding. Educational objective: Hurler syndrome is a mucopolysaccharidosis caused by a deficiency of alpha-L-iduronidase, which hydrolyzes dermatan and heparan sulfate. Accumulation of these substances results in the characteristic features of intellectual disability, coarse facial features, corneal clouding, and hepatosplenomegaly. Early death due to cardiac complications (eg, myocardial infarction) is expected. References • Early disease progression of Hurler syndrome. Block Time Remaining: 00:02:05 TUTOR https://t.me/USMLEWorldStep1 i Suspend O End Block — Item 1 of 1 Question W: 21503 P' Mark <l Previous > Next rn L J Full Screen © Tutorial i Lab Values =* Notes Calculator Reverse Color CEA) Text Zoom i§! Settings A ( Choice C ) Glycogen storage diseases cause defective metabolism of glycogen in the liver and/or muscles. The presentation can include hypoglycemia, lactic acidosis, hepatomegaly, growth retardation, and/or muscle fatigue/cramping. Cardiomegaly can occur with Pompe disease, but corneal clouding is not a feature. ( Choice E) Niemann-Pick disease results from a deficiency of sphingomyelinase, which leads to the accumulation of sphingomyelin within phagocytes. This disease is characterized by hepatosplenomegaly and progressive neurologic deterioration, but eye findings include a cherry-red spot on the macula, not corneal clouding. Educational objective: Hurler syndrome is a mucopolysaccharidosis caused by a deficiency of alpha-L-iduronidase, which hydrolyzes dermatan and heparan sulfate. Accumulation of these substances results in the characteristic features of intellectual disability, coarse facial features, corneal clouding, and hepatosplenomegaly. Early death due to cardiac complications (eg, myocardial infarction) is expected. References • Early disease progression of Hurler syndrome. Block Time Remaining: 00:02:05 TUTOR https://t.me/USMLEWorldStep1 i Suspend O End Block — Item 1 of 1 Question W: 21503 P' Mark <l Previous > Next rn L J Full Screen © Tutorial i Lab Values =* Notes Calculator Reverse Color CEA) Text Zoom i§! Settings A ( Choice C ) Glycogen storage diseases cause defective metabolism of glycogen in the liver and/or muscles. The presentation can include hypoglycemia, lactic acidosis, hepatomegaly, growth retardation, and/or muscle fatigue/cramping. Cardiomegaly can occur with Pompe disease, but corneal clouding is not a feature. ( Choice E) Niemann-Pick disease results from a deficiency of sphingomyelinase, which leads to the accumulation of sphingomyelin within phagocytes. This disease is characterized by hepatosplenomegaly and progressive neurologic deterioration, but eye findings include a cherry-red spot on the macula, not corneal clouding. Educational objective: Hurler syndrome is a mucopolysaccharidosis caused by a deficiency of alpha-L-iduronidase, which hydrolyzes dermatan and heparan sulfate. Accumulation of these substances results in the characteristic features of intellectual disability, coarse facial features, corneal clouding, and hepatosplenomegaly. Early death due to cardiac complications (eg, myocardial infarction) is expected. References • Early disease progression of Hurler syndrome. Block Time Remaining: 00:02:05 TUTOR https://t.me/USMLEWorldStep1 i Suspend O End Block — Item 1 of 1 Question W: 21503 P' Mark <l Previous > Next rn L J Full Screen © Tutorial i Lab Values =* Notes Calculator Reverse Color CEA ) Text Zoom i§! Settings A ( Choice C ) Glycogenstoragediseasescause defectivemetabolismof glycogenin the liverand/or , growthretardation, , lacticacidosis, hepatomegaly muscles. The presentationcan includehypoglycemia and/or musclefatigue/cramping. Cardiomegalycan occurwith Pompe disease, but cornealcloudingis not a feature. ( Choice E) Niemann-Pick disease resultsfrom a deficiencyof sphingomyelinase , whichleads to the accumulationof sphingomyelinwithinphagocytes. This disease is characterizedby hepatosplenomegaly and progressiveneurologicdeterioration , but eye findingsincludea cherry-red spot on the macula, not cornealclouding. Educational objective : Hurler syndromeis a mucopolysaccharidosis caused by a deficiencyof alpha-L-iduronidase, which hydrolyzesdermatanand heparan sulfate. Accumulationof these substancesresultsin the characteristic , coarse facialfeatures, cornealclouding , and hepatosplenomegaly . Early featuresof intellectualdisability death due to cardiaccomplications(eg, myocardialinfarction) is expected. References • Early diseaseprogressionof Hurler syndrome. Block Time Remaining : 00:02: 05 TUTOR https://t.me/USMLEWorldStep1 i Suspend O EndBlock — Item 1 of 1 Question W: 21503 P' Mark <l Previous > Next r n L J Full Screen © Tutorial i Lab Values =* Notes Calculator Reverse Color CEA ) Text Zoom i§! Settings A ( Choice C ) Glycogen storage diseases cause defective metabolism of glycogen in the liver and /or muscles . The presentation can include hypoglycemia , lactic acidosis , hepatomegaly , growth retardation, and /or muscle fatigue /cramping. Cardiomegaly can occur with Pompe disease , but corneal clouding is not a feature. ( Choice E) Niemann -Pick disease results from a deficiency of sphingomyelinase , which leads to the accumulation of sphingomyelin within phagocytes . This disease is characterized by hepatosplenomegaly and progressive neurologic deterioration, but eye findings include a cherry-red spot on the macula , not corneal clouding . Educational objective : Hurler syndrome is a mucopolysaccharidosis caused by a deficiency of alpha -L-iduronidase , which hydrolyzes dermatan and heparan sulfate . Accumulation of these substances results in the characteristic features of intellectual disability, coarse facial features , corneal clouding, and hepatosplenomegaly . Early death due to cardiac complications (eg , myocardial infarction) is expected . References • Early disease progression of Hurler syndrome . Block Time Remaining : 00:02: 05 TUTOR https://t.me /USMLEWorldStep1 i Suspend O End Block — Item 1 of 1 Question W: 21503 P' Mark <l Previous > Next rn L J Full Screen © Tutorial i Lab Values =* Notes Calculator Reverse Color CEA ) Text Zoom i§! Settings A ( Choice C ) Glycogenstoragediseasescause defectivemetabolismof glycogenin the liverand/or , growthretardation, , lacticacidosis, hepatomegaly muscles. The presentationcan includehypoglycemia and/or musclefatigue/cramping. Cardiomegalycan occurwith Pompe disease, but cornealcloudingis not a feature. ( Choice E) Niemann-Pick disease resultsfrom a deficiencyof sphingomyelinase , whichleads to the accumulationof sphingomyelinwithinphagocytes. This disease is characterizedby hepatosplenomegaly and progressiveneurologicdeterioration , but eye findingsincludea cherry-red spot on the macula, not cornealclouding. Educational objective : Hurler syndromeis a mucopolysaccharidosis caused by a deficiencyof alpha-L-iduronidase, which hydrolyzesdermatanand heparan sulfate. Accumulationof these substancesresultsin the characteristic , coarse facialfeatures, cornealclouding , and hepatosplenomegaly . Early featuresof intellectualdisability death due to cardiaccomplications(eg, myocardialinfarction) is expected. References • Early diseaseprogressionof Hurler syndrome. Block Time Remaining : 00:02: 05 TUTOR https://t.me/USMLEWorldStep1 i Suspend O EndBlock — Item1 of1 QuestionW :21503 P'Mark <l Previous > Next r n L J Full Screen © Tutorial i Lab Values =* Notes Calculator Reverse Color CEA ) Text Zoom §! i Settings A (ChoiceC ) Glycogenstoragediseasescause defectivemetabolismof glycogenin the liverand/or , growthretardation, , lacticacidosis, hepatomegaly muscles. The presentationcan includehypoglycemia and/or musclefatigue/cramping. Cardiomegalycan occurwith Pompe disease, but cornealcloudingis not a feature. (Choice E ) Niemann-Pick disease resultsfrom a deficiencyof sphingomyelinase , whichleads to the accumulationof sphingomyelinwithinphagocytes. This disease is characterizedby hepatosplenomegaly and progressiveneurologicdeterioration , but eye findingsincludea cherry-red spot on the macula, not cornealclouding. Educational objective : Hurler syndromeis a mucopolysaccharidosis caused by a deficiencyof alpha-L-iduronidase, which hydrolyzesdermatanand heparan sulfate. Accumulationof these substancesresultsin the characteristic , coarse facialfeatures, cornealclouding , and hepatosplenomegaly . Early featuresof intellectualdisability death due to cardiaccomplications(eg, myocardialinfarction) is expected. References • Early diseaseprogressionof Hurler syndrome. Block Time Remaining:00:02:05 TUTOR https://t.me/USMLEWorldStep1 i Suspend O EndBlock — Item 1 of 1 Question W: 21503 P' Mark <l Previous > Next rn L J Full Screen © Tutorial i Lab Values =* Notes Calculator Reverse Color CEA) Text Zoom i§! Settings A ( Choice C ) Glycogen storage diseases cause defective metabolism of glycogen in the liver and/or muscles. The presentation can include hypoglycemia, lactic acidosis, hepatomegaly, growth retardation, and/or muscle fatigue/cramping. Cardiomegaly can occur with Pompe disease, but corneal clouding is not a feature. ( Choice E) Niemann-Pick disease results from a deficiency of sphingomyelinase, which leads to the accumulation of sphingomyelin within phagocytes. This disease is characterized by hepatosplenomegaly and progressive neurologic deterioration, but eye findings include a cherry-red spot on the macula, not corneal clouding. Educational objective: Hurler syndrome is a mucopolysaccharidosis caused by a deficiency of alpha-L-iduronidase, which hydrolyzes dermatan and heparan sulfate. Accumulation of these substances results in the characteristic features of intellectual disability, coarse facial features, corneal clouding, and hepatosplenomegaly. Early death due to cardiac complications (eg, myocardial infarction) is expected. References • Early disease progression of Hurler syndrome. Block Time Remaining: 00:02:05 TUTOR https://t.me/USMLEWorldStep1 i Suspend O End Block — Item 1 of 1 Question W: 21503 P' Mark <l Previous > Next rn L J Full Screen © Tutorial i Lab Values =* Notes Calculator Reverse Color CEA) Text Zoom i§! Settings A ( Choice C ) Glycogen storage diseases cause defective metabolism of glycogen in the liver and/or muscles. The presentation can include hypoglycemia, lactic acidosis, hepatomegaly, growth retardation, and/or muscle fatigue/cramping. Cardiomegaly can occur with Pompe disease, but corneal clouding is not a feature. ( Choice E) Niemann-Pick disease results from a deficiency of sphingomyelinase, which leads to the accumulation of sphingomyelin within phagocytes. This disease is characterized by hepatosplenomegaly and progressive neurologic deterioration, but eye findings include a cherry-red spot on the macula, not corneal clouding. Educational objective: Hurler syndrome is a mucopolysaccharidosis caused by a deficiency of alpha-L-iduronidase, which hydrolyzes dermatan and heparan sulfate. Accumulation of these substances results in the characteristic features of intellectual disability, coarse facial features, corneal clouding, and hepatosplenomegaly. Early death due to cardiac complications (eg, myocardial infarction) is expected. References • Early disease progression of Hurler syndrome. Block Time Remaining: 00:02:05 TUTOR https://t.me/USMLEWorldStep1 i Suspend O End Block — Item1 of1 QuestionW :21503 P'Mark <l Previous > Next r n L J Full Screen © Tutorial i Lab Values =* Notes Calculator Reverse Color CEA ) Text Zoom §! i Settings A (ChoiceC ) Glycogenstoragediseasescause defectivemetabolismof glycogenin the liverand/or , growthretardation, , lacticacidosis, hepatomegaly muscles. The presentationcan includehypoglycemia and/or musclefatigue/cramping. Cardiomegalycan occurwith Pompe disease, but cornealcloudingis not a feature. (Choice E ) Niemann-Pick disease resultsfrom a deficiencyof sphingomyelinase , whichleads to the accumulationof sphingomyelinwithinphagocytes. This disease is characterizedby hepatosplenomegaly and progressiveneurologicdeterioration , but eye findingsincludea cherry-red spot on the macula, not cornealclouding. Educational objective : Hurler syndromeis a mucopolysaccharidosis caused by a deficiencyof alpha-L-iduronidase, which hydrolyzesdermatanand heparan sulfate. Accumulationof these substancesresultsin the characteristic , coarse facialfeatures, cornealclouding , and hepatosplenomegaly . Early featuresof intellectualdisability death due to cardiaccomplications(eg, myocardialinfarction) is expected. References • Early diseaseprogressionof Hurler syndrome. Block Time Remaining:00:02:05 TUTOR https://t.me/USMLEWorldStep1 i Suspend O EndBlock — Item 1 of 1 Question W: 21503 P' Mark <l Previous > Next rn L J Full Screen © Tutorial i Lab Values =* Notes Calculator Reverse Color CEA) Text Zoom i§! Settings A ( Choice C ) Glycogen storage diseases cause defective metabolism of glycogen in the liver and/or muscles. The presentation can include hypoglycemia, lactic acidosis, hepatomegaly, growth retardation, and/or muscle fatigue/cramping. Cardiomegaly can occur with Pompe disease, but corneal clouding is not a feature. ( Choice E) Niemann-Pick disease results from a deficiency of sphingomyelinase, which leads to the accumulation of sphingomyelin within phagocytes. This disease is characterized by hepatosplenomegaly and progressive neurologic deterioration, but eye findings include a cherry-red spot on the macula, not corneal clouding. Educational objective: Hurler syndrome is a mucopolysaccharidosis caused by a deficiency of alpha-L-iduronidase, which hydrolyzes dermatan and heparan sulfate. Accumulation of these substances results in the characteristic features of intellectual disability, coarse facial features, corneal clouding, and hepatosplenomegaly. Early death due to cardiac complications (eg, myocardial infarction) is expected. References • Early disease progression of Hurler syndrome. Block Time Remaining: 00:02:05 TUTOR https://t.me/USMLEWorldStep1 i Suspend O End Block — Item 1 of 1 Question W: 21503 P' Mark <l Previous > Next r n L J Full Screen © Tutorial i Lab Values =* Notes Calculator Reverse Color CEA ) Text Zoom i§! Settings A ( Choice C ) Glycogenstoragediseasescause defectivemetabolismof glycogenin the liverand/or , growthretardation, , lacticacidosis, hepatomegaly muscles. The presentationcan includehypoglycemia and/or musclefatigue/cramping. Cardiomegalycan occurwith Pompe disease, but cornealcloudingis not a feature. ( Choice E) Niemann-Pick disease resultsfrom a deficiencyof sphingomyelinase , whichleads to the accumulationof sphingomyelinwithinphagocytes. This disease is characterizedby hepatosplenomegaly and progressiveneurologicdeterioration , but eye findingsincludea cherry-red spot on the macula, not cornealclouding. Educational objective : Hurler syndromeis a mucopolysaccharidosis caused by a deficiencyof alpha-L-iduronidase, which hydrolyzesdermatanand heparan sulfate. Accumulationof these substancesresultsin the characteristic , coarse facialfeatures, cornealclouding , and hepatosplenomegaly . Early featuresof intellectualdisability death due to cardiaccomplications(eg, myocardialinfarction) is expected. References • Early diseaseprogressionof Hurler syndrome. Block Time Remaining : 00:02: 05 TUTOR https://t.me/USMLEWorldStep1 i Suspend O EndBlock — Item1 of1 QuestionW :21503 P'Mark <l Previous > Next r n L J Full Screen © Tutorial i Lab Values =* Notes Calculator Reverse Color CEA ) Text Zoom §! i Settings A (ChoiceC ) Glycogen storage diseases cause defective metabolism of glycogen in the liver and/or muscles. The presentation can include hypoglycemia, lactic acidosis, hepatomegaly, growth retardation, and/or muscle fatigue/cramping. Cardiomegaly can occur with Pompe disease, but corneal clouding is not a feature. (Choice E ) Niemann-Pick disease results from a deficiency of sphingomyelinase, which leads to the accumulation of sphingomyelin within phagocytes. This disease is characterized by hepatosplenomegaly and progressive neurologic deterioration, but eye findings include a cherry-red spot on the macula, not corneal clouding. Educational objective : Hurler syndrome is a mucopolysaccharidosis caused by a deficiency of alpha-L-iduronidase, which hydrolyzes dermatan and heparan sulfate. Accumulation of these substances results in the characteristic features of intellectual disability, coarse facial features, corneal clouding, and hepatosplenomegaly. Early death due to cardiac complications (eg, myocardial infarction) is expected. References • Early disease progression of Hurler syndrome. Block Time Remaining:00:02:05 TUTOR https://t.me/USMLEWorldStep1 i Suspend O End Block — Item1 of1 QuestionW :21503 P'Mark <l Previous > Next r n L J Full Screen © Tutorial i Lab Values =* Notes Calculator Reverse Color CEA ) Text Zoom §! i Settings A (ChoiceC ) Glycogen storage diseases cause defective metabolism of glycogen in the liver and/or muscles. The presentation can include hypoglycemia, lactic acidosis, hepatomegaly, growth retardation, and/or muscle fatigue/cramping. Cardiomegaly can occur with Pompe disease, but corneal clouding is not a feature. (Choice E ) Niemann-Pick disease results from a deficiency of sphingomyelinase, which leads to the accumulation of sphingomyelin within phagocytes. This disease is characterized by hepatosplenomegaly and progressive neurologic deterioration, but eye findings include a cherry-red spot on the macula, not corneal clouding. Educational objective : Hurler syndrome is a mucopolysaccharidosis caused by a deficiency of alpha-L-iduronidase, which hydrolyzes dermatan and heparan sulfate. Accumulation of these substances results in the characteristic features of intellectual disability, coarse facial features, corneal clouding, and hepatosplenomegaly. Early death due to cardiac complications (eg, myocardial infarction) is expected. References • Early disease progression of Hurler syndrome. Block Time Remaining:00:02:05 TUTOR https://t.me/USMLEWorldStep1 i Suspend O End Block — Item1 of1 QuestionW :21503 P'Mark <l Previous > Next r n L J Full Screen © Tutorial i Lab Values =* Notes Calculator Reverse Color CEA ) Text Zoom §! i Settings A (ChoiceC ) Glycogen storage diseases cause defective metabolism of glycogen in the liver and/or muscles. The presentation can include hypoglycemia, lactic acidosis, hepatomegaly, growth retardation, and/or muscle fatigue/cramping. Cardiomegaly can occur with Pompe disease, but corneal clouding is not a feature. (Choice E ) Niemann-Pick disease results from a deficiency of sphingomyelinase, which leads to the accumulation of sphingomyelin within phagocytes. This disease is characterized by hepatosplenomegaly and progressive neurologic deterioration, but eye findings include a cherry-red spot on the macula, not corneal clouding. Educational objective : Hurler syndrome is a mucopolysaccharidosis caused by a deficiency of alpha-L-iduronidase, which hydrolyzes dermatan and heparan sulfate. Accumulation of these substances results in the characteristic features of intellectual disability, coarse facial features, corneal clouding, and hepatosplenomegaly. Early death due to cardiac complications (eg, myocardial infarction) is expected. References • Early disease progression of Hurler syndrome. Block Time Remaining:00:02:05 TUTOR https://t.me/USMLEWorldStep1 i Suspend O End Block — Item1 of1 QuestionW :21503 P'Mark <l Previous > Next r n L J Full Screen © Tutorial i Lab Values =* Notes Calculator Reverse Color CEA ) Text Zoom §! i Settings A (ChoiceC ) Glycogen storage diseases cause defective metabolism of glycogen in the liver and/or muscles. The presentation can include hypoglycemia, lactic acidosis, hepatomegaly, growth retardation, and/or muscle fatigue/cramping. Cardiomegaly can occur with Pompe disease, but corneal clouding is not a feature. (Choice E ) Niemann-Pick disease results from a deficiency of sphingomyelinase, which leads to the accumulation of sphingomyelin within phagocytes. This disease is characterized by hepatosplenomegaly and progressive neurologic deterioration, but eye findings include a cherry-red spot on the macula, not corneal clouding. Educational objective : Hurler syndrome is a mucopolysaccharidosis caused by a deficiency of alpha-L-iduronidase, which hydrolyzes dermatan and heparan sulfate. Accumulation of these substances results in the characteristic features of intellectual disability, coarse facial features, corneal clouding, and hepatosplenomegaly. Early death due to cardiac complications (eg, myocardial infarction) is expected. References • Early disease progression of Hurler syndrome. Block Time Remaining:00:02:05 TUTOR https://t.me/USMLEWorldStep1 i Suspend O End Block — Item1 of1 QuestionW :21503 P'Mark <l Previous > Next r n L J Full Screen © Tutorial i Lab Values =* Notes Calculator Reverse Color CEA ) Text Zoom §! i Settings A (ChoiceC ) Glycogenstoragediseasescause defectivemetabolismof glycogenin the liverand/or , growthretardation, , lacticacidosis, hepatomegaly muscles. The presentationcan includehypoglycemia and/or musclefatigue/cramping. Cardiomegalycan occurwith Pompe disease, but cornealcloudingis not a feature. (Choice E ) Niemann-Pick disease resultsfrom a deficiencyof sphingomyelinase , whichleads to the accumulationof sphingomyelinwithinphagocytes. This disease is characterizedby hepatosplenomegaly and progressiveneurologicdeterioration , but eye findingsincludea cherry-red spot on the macula, not cornealclouding. Educational objective : Hurler syndromeis a mucopolysaccharidosis caused by a deficiencyof alpha-L-iduronidase, which hydrolyzesdermatanand heparan sulfate. Accumulationof these substancesresultsin the characteristic , coarse facialfeatures, cornealclouding , and hepatosplenomegaly . Early featuresof intellectualdisability death due to cardiaccomplications(eg, myocardialinfarction) is expected. References • Early diseaseprogressionof Hurler syndrome. Block Time Remaining:00:02:05 TUTOR https://t.me/USMLEWorldStep1 i Suspend O EndBlock — Item1 of1 QuestionW :21503 P'Mark <l Previous > Next r n L J Full Screen © Tutorial i Lab Values =* Notes Calculator Reverse Color CEA ) Text Zoom §! i Settings A (ChoiceC ) Glycogenstoragediseasescause defectivemetabolismof glycogenin the liverand/or , growthretardation, , lacticacidosis, hepatomegaly muscles. The presentationcan includehypoglycemia and/or musclefatigue/cramping. Cardiomegalycan occurwith Pompe disease, but cornealcloudingis not a feature. (Choice E ) Niemann-Pick disease resultsfrom a deficiencyof sphingomyelinase , whichleads to the accumulationof sphingomyelinwithinphagocytes. This disease is characterizedby hepatosplenomegaly and progressiveneurologicdeterioration , but eye findingsincludea cherry-red spot on the macula, not cornealclouding. Educational objective : Hurler syndromeis a mucopolysaccharidosis caused by a deficiencyof alpha-L-iduronidase, which hydrolyzesdermatanand heparan sulfate. Accumulationof these substancesresultsin the characteristic , coarse facialfeatures, cornealclouding , and hepatosplenomegaly . Early featuresof intellectualdisability death due to cardiaccomplications(eg, myocardialinfarction) is expected. References • Early diseaseprogressionof Hurler syndrome. Block Time Remaining:00:02:05 TUTOR https://t.me/USMLEWorldStep1 i Suspend O EndBlock — Item 1 of 1 Question W: 21503 P' Mark <l Previous > Next rn L J Full Screen © Tutorial i Lab Values =* Notes Calculator Reverse Color CEA) Text Zoom i§! Settings A ( Choice C ) Glycogen storage diseases cause defective metabolism of glycogen in the liver and/or muscles. The presentation can include hypoglycemia, lactic acidosis, hepatomegaly, growth retardation, and/or muscle fatigue/cramping. Cardiomegaly can occur with Pompe disease, but corneal clouding is not a feature. ( Choice E) Niemann-Pick disease results from a deficiency of sphingomyelinase, which leads to the accumulation of sphingomyelin within phagocytes. This disease is characterized by hepatosplenomegaly and progressive neurologic deterioration, but eye findings include a cherry-red spot on the macula, not corneal clouding. Educational objective: Hurler syndrome is a mucopolysaccharidosis caused by a deficiency of alpha-L-iduronidase, which hydrolyzes dermatan and heparan sulfate. Accumulation of these substances results in the characteristic features of intellectual disability, coarse facial features, corneal clouding, and hepatosplenomegaly. Early death due to cardiac complications (eg, myocardial infarction) is expected. References • Early disease progression of Hurler syndrome. Block Time Remaining: 00:02:05 TUTOR https://t.me/USMLEWorldStep1 i Suspend O End Block — Item1 of1 QuestionW :21503 P'Mark <l Previous > Next r n L J Full Screen © Tutorial i Lab Values =* Notes Calculator Reverse Color CEA ) Text Zoom §! i Settings A (ChoiceC ) Glycogenstoragediseasescause defectivemetabolismof glycogenin the liverand/or , growthretardation, , lacticacidosis, hepatomegaly muscles. The presentationcan includehypoglycemia and/or musclefatigue/cramping. Cardiomegalycan occurwith Pompe disease, but cornealcloudingis not a feature. (Choice E ) Niemann-Pick disease resultsfrom a deficiencyof sphingomyelinase , whichleads to the accumulationof sphingomyelinwithinphagocytes. This disease is characterizedby hepatosplenomegaly and progressiveneurologicdeterioration , but eye findingsincludea cherry-red spot on the macula, not cornealclouding. Educational objective : Hurler syndromeis a mucopolysaccharidosis caused by a deficiencyof alpha-L-iduronidase, which hydrolyzesdermatanand heparan sulfate. Accumulationof these substancesresultsin the characteristic , coarse facialfeatures, cornealclouding , and hepatosplenomegaly . Early featuresof intellectualdisability death due to cardiaccomplications(eg, myocardialinfarction) is expected. References • Early diseaseprogressionof Hurler syndrome. Block Time Remaining:00:02:05 TUTOR https://t.me/USMLEWorldStep1 i Suspend O EndBlock — Item 1 of 1 Question W: 21503 P' Mark <l Previous > Next r n L J Full Screen © Tutorial i Lab Values =* Notes Calculator Reverse Color CEA ) Text Zoom i§! Settings A ( Choice C ) Glycogenstoragediseasescause defectivemetabolismof glycogenin the liverand/or , growthretardation, , lacticacidosis, hepatomegaly muscles. The presentationcan includehypoglycemia and/or musclefatigue/cramping. Cardiomegalycan occurwith Pompe disease, but cornealcloudingis not a feature. ( Choice E) Niemann-Pick disease resultsfrom a deficiencyof sphingomyelinase , whichleads to the accumulationof sphingomyelinwithinphagocytes. This disease is characterizedby hepatosplenomegaly and progressiveneurologicdeterioration , but eye findingsincludea cherry-red spot on the macula, not cornealclouding. Educational objective : Hurler syndromeis a mucopolysaccharidosis caused by a deficiencyof alpha-L-iduronidase, which hydrolyzesdermatanand heparan sulfate. Accumulationof these substancesresultsin the characteristic , coarse facialfeatures, cornealclouding , and hepatosplenomegaly . Early featuresof intellectualdisability death due to cardiaccomplications(eg, myocardialinfarction) is expected. References • Early diseaseprogressionof Hurler syndrome. Block Time Remaining : 00:02: 05 TUTOR https://t.me/USMLEWorldStep1 i Suspend O EndBlock — Item1 of1 QuestionW :21503 P'Mark <l Previous > Next r n L J Full Screen © Tutorial i Lab Values =* Notes Calculator Reverse Color CEA ) Text Zoom §! i Settings A (ChoiceC ) Glycogenstoragediseasescause defectivemetabolismof glycogenin the liverand/or , growthretardation, , lacticacidosis, hepatomegaly muscles. The presentationcan includehypoglycemia and/or musclefatigue/cramping. Cardiomegalycan occurwith Pompe disease, but cornealcloudingis not a feature. (Choice E ) Niemann-Pick disease resultsfrom a deficiencyof sphingomyelinase , whichleads to the accumulationof sphingomyelinwithinphagocytes. This disease is characterizedby hepatosplenomegaly and progressiveneurologicdeterioration , but eye findingsincludea cherry-red spot on the macula, not cornealclouding. Educational objective : Hurler syndromeis a mucopolysaccharidosis caused by a deficiencyof alpha-L-iduronidase, which hydrolyzesdermatanand heparan sulfate. Accumulationof these substancesresultsin the characteristic , coarse facialfeatures, cornealclouding , and hepatosplenomegaly . Early featuresof intellectualdisability death due to cardiaccomplications(eg, myocardialinfarction) is expected. References • Early diseaseprogressionof Hurler syndrome. Block Time Remaining:00:02:05 TUTOR https://t.me/USMLEWorldStep1 i Suspend O EndBlock — Item1 of1 QuestionW :21503 P'Mark <l Previous > Next r n L J Full Screen © Tutorial i Lab Values =* Notes Calculator Reverse Color CEA ) Text Zoom §! i Settings A (ChoiceC ) Glycogen storage diseases cause defective metabolism of glycogen in the liver and/or muscles. The presentation can include hypoglycemia, lactic acidosis, hepatomegaly, growth retardation, and/or muscle fatigue/cramping. Cardiomegaly can occur with Pompe disease, but corneal clouding is not a feature. (Choice E ) Niemann-Pick disease results from a deficiency of sphingomyelinase, which leads to the accumulation of sphingomyelin within phagocytes. This disease is characterized by hepatosplenomegaly and progressive neurologic deterioration, but eye findings include a cherry-red spot on the macula, not corneal clouding. Educational objective : Hurler syndrome is a mucopolysaccharidosis caused by a deficiency of alpha-L-iduronidase, which hydrolyzes dermatan and heparan sulfate. Accumulation of these substances results in the characteristic features of intellectual disability, coarse facial features, corneal clouding, and hepatosplenomegaly. Early death due to cardiac complications (eg, myocardial infarction) is expected. References • Early disease progression of Hurler syndrome. Block Time Remaining:00:02:05 TUTOR https://t.me/USMLEWorldStep1 i Suspend O End Block — Item1 of1 QuestionW :21503 P'Mark <l Previous > Next r n L J Full Screen © Tutorial i Lab Values =* Notes Calculator Reverse Color CEA ) Text Zoom §! i Settings A (ChoiceC ) Glycogenstoragediseasescause defectivemetabolismof glycogenin the liverand/or , growthretardation, , lacticacidosis, hepatomegaly muscles. The presentationcan includehypoglycemia and/or musclefatigue/cramping. Cardiomegalycan occurwith Pompe disease, but cornealcloudingis not a feature. (Choice E ) Niemann-Pick disease resultsfrom a deficiencyof sphingomyelinase , whichleads to the accumulationof sphingomyelinwithinphagocytes. This disease is characterizedby hepatosplenomegaly and progressiveneurologicdeterioration , but eye findingsincludea cherry-red spot on the macula, not cornealclouding. Educational objective : Hurler syndromeis a mucopolysaccharidosis caused by a deficiencyof alpha-L-iduronidase, which hydrolyzesdermatanand heparan sulfate. Accumulationof these substancesresultsin the characteristic , coarse facialfeatures, cornealclouding , and hepatosplenomegaly . Early featuresof intellectualdisability death due to cardiaccomplications(eg, myocardialinfarction) is expected. References • Early diseaseprogressionof Hurler syndrome. Block Time Remaining:00:02:05 TUTOR https://t.me/USMLEWorldStep1 i Suspend O EndBlock — Item1 of1 QuestionW :21503 P'Mark <l Previous > Next r n L J Full Screen © Tutorial i Lab Values =* Notes Calculator Reverse Color CEA ) Text Zoom §! i Settings A (ChoiceC ) Glycogenstoragediseasescause defectivemetabolismof glycogenin the liverand/or , growthretardation, , lacticacidosis, hepatomegaly muscles. The presentationcan includehypoglycemia and/or musclefatigue/cramping. Cardiomegalycan occurwith Pompe disease, but cornealcloudingis not a feature. (Choice E ) Niemann-Pick disease resultsfrom a deficiencyof sphingomyelinase , whichleads to the accumulationof sphingomyelinwithinphagocytes. This disease is characterizedby hepatosplenomegaly and progressiveneurologicdeterioration , but eye findingsincludea cherry-red spot on the macula, not cornealclouding. Educational objective : Hurler syndromeis a mucopolysaccharidosis caused by a deficiencyof alpha-L-iduronidase, which hydrolyzesdermatanand heparan sulfate. Accumulationof these substancesresultsin the characteristic , coarse facialfeatures, cornealclouding , and hepatosplenomegaly . Early featuresof intellectualdisability death due to cardiaccomplications(eg, myocardialinfarction) is expected. References • Early diseaseprogressionof Hurler syndrome. Block Time Remaining:00:02:05 TUTOR https://t.me/USMLEWorldStep1 i Suspend O EndBlock — Item1 of1 QuestionW :21503 P'Mark <l Previous > Next r n L J Full Screen © Tutorial i Lab Values =* Notes Calculator Reverse Color CEA ) Text Zoom §! i Settings A (ChoiceC ) Glycogenstoragediseasescause defectivemetabolismof glycogenin the liverand/or , growthretardation, , lacticacidosis, hepatomegaly muscles. The presentationcan includehypoglycemia and/or musclefatigue/cramping. Cardiomegalycan occurwith Pompe disease, but cornealcloudingis not a feature. (Choice E ) Niemann-Pick disease resultsfrom a deficiencyof sphingomyelinase , whichleads to the accumulationof sphingomyelinwithinphagocytes. This disease is characterizedby hepatosplenomegaly and progressiveneurologicdeterioration , but eye findingsincludea cherry-red spot on the macula, not cornealclouding. Educational objective : Hurler syndromeis a mucopolysaccharidosis caused by a deficiencyof alpha-L-iduronidase, which hydrolyzesdermatanand heparan sulfate. Accumulationof these substancesresultsin the characteristic , coarse facialfeatures, cornealclouding , and hepatosplenomegaly . Early featuresof intellectualdisability death due to cardiaccomplications(eg, myocardialinfarction) is expected. References • Early diseaseprogressionof Hurler syndrome. Block Time Remaining:00:02:05 TUTOR https://t.me/USMLEWorldStep1 i Suspend O EndBlock — Item 1 of 1 Question W: 21503 P' Mark <l Previous > Next rn L J Full Screen © Tutorial i Lab Values =* Notes Calculator Reverse Color CEA) Text Zoom i§! Settings A ( Choice C ) Glycogen storage diseases cause defective metabolism of glycogen in the liver and/or muscles. The presentation can include hypoglycemia, lactic acidosis, hepatomegaly, growth retardation, and/or muscle fatigue/cramping. Cardiomegaly can occur with Pompe disease, but corneal clouding is not a feature. ( Choice E) Niemann-Pick disease results from a deficiency of sphingomyelinase, which leads to the accumulation of sphingomyelin within phagocytes. This disease is characterized by hepatosplenomegaly and progressive neurologic deterioration, but eye findings include a cherry-red spot on the macula, not corneal clouding. Educational objective: Hurler syndrome is a mucopolysaccharidosis caused by a deficiency of alpha-L-iduronidase, which hydrolyzes dermatan and heparan sulfate. Accumulation of these substances results in the characteristic features of intellectual disability, coarse facial features, corneal clouding, and hepatosplenomegaly. Early death due to cardiac complications (eg, myocardial infarction) is expected. References • Early disease progression of Hurler syndrome. Block Time Remaining: 00:02:05 TUTOR https://t.me/USMLEWorldStep1 i Suspend O End Block — Item 1 of 1 Question W: 21503 P' Mark <l Previous > Next r n L J Full Screen © Tutorial i Lab Values =* Notes Calculator Reverse Color CEA ) Text Zoom i§! Settings A ( Choice C ) Glycogenstoragediseasescause defectivemetabolismof glycogenin the liverand/or , growthretardation, , lacticacidosis, hepatomegaly muscles. The presentationcan includehypoglycemia and/or musclefatigue/cramping. Cardiomegalycan occurwith Pompe disease, but cornealcloudingis not a feature. ( Choice E) Niemann-Pick disease resultsfrom a deficiencyof sphingomyelinase , whichleads to the accumulationof sphingomyelinwithinphagocytes. This disease is characterizedby hepatosplenomegaly and progressiveneurologicdeterioration , but eye findingsincludea cherry-red spot on the macula, not cornealclouding. Educational objective : Hurler syndromeis a mucopolysaccharidosis caused by a deficiencyof alpha-L-iduronidase, which hydrolyzesdermatanand heparan sulfate. Accumulationof these substancesresultsin the characteristic , coarse facialfeatures, cornealclouding , and hepatosplenomegaly . Early featuresof intellectualdisability death due to cardiaccomplications(eg, myocardialinfarction) is expected. References • Early diseaseprogressionof Hurler syndrome. Block Time Remaining : 00:02: 05 TUTOR https://t.me/USMLEWorldStep1 i Suspend O EndBlock — Item 1 of 1 Question W: 21503 P' Mark <l Previous > Next rn L J Full Screen © Tutorial i Lab Values =* Notes Calculator Reverse Color CEA) Text Zoom i§! Settings A ( Choice C ) Glycogen storage diseases cause defective metabolism of glycogen in the liver and/or muscles. The presentation can include hypoglycemia, lactic acidosis, hepatomegaly, growth retardation, and/or muscle fatigue/cramping. Cardiomegaly can occur with Pompe disease, but corneal clouding is not a feature. ( Choice E) Niemann-Pick disease results from a deficiency of sphingomyelinase, which leads to the accumulation of sphingomyelin within phagocytes. This disease is characterized by hepatosplenomegaly and progressive neurologic deterioration, but eye findings include a cherry-red spot on the macula, not corneal clouding. Educational objective: Hurler syndrome is a mucopolysaccharidosis caused by a deficiency of alpha-L-iduronidase, which hydrolyzes dermatan and heparan sulfate. Accumulation of these substances results in the characteristic features of intellectual disability, coarse facial features, corneal clouding, and hepatosplenomegaly. Early death due to cardiac complications (eg, myocardial infarction) is expected. References • Early disease progression of Hurler syndrome. Block Time Remaining: 00:02:05 TUTOR https://t.me/USMLEWorldStep1 i Suspend O End Block — Item 1 of 1 Question W: 21503 P' Mark <l Previous > Next rn L J Full Screen © Tutorial i Lab Values =* Notes Calculator Reverse Color CEA) Text Zoom i§! Settings A ( Choice C ) Glycogen storage diseases cause defective metabolism of glycogen in the liver and/or muscles. The presentation can include hypoglycemia, lactic acidosis, hepatomegaly, growth retardation, and/or muscle fatigue/cramping. Cardiomegaly can occur with Pompe disease, but corneal clouding is not a feature. ( Choice E) Niemann-Pick disease results from a deficiency of sphingomyelinase, which leads to the accumulation of sphingomyelin within phagocytes. This disease is characterized by hepatosplenomegaly and progressive neurologic deterioration, but eye findings include a cherry-red spot on the macula, not corneal clouding. Educational objective: Hurler syndrome is a mucopolysaccharidosis caused by a deficiency of alpha-L-iduronidase, which hydrolyzes dermatan and heparan sulfate. Accumulation of these substances results in the characteristic features of intellectual disability, coarse facial features, corneal clouding, and hepatosplenomegaly. Early death due to cardiac complications (eg, myocardial infarction) is expected. References • Early disease progression of Hurler syndrome. Block Time Remaining: 00:02:05 TUTOR https://t.me/USMLEWorldStep1 i Suspend O End Block — Item1 of1 QuestionW :21503 P'Mark <l Previous > Next r n L J Full Screen © Tutorial i Lab Values =* Notes Calculator Reverse Color CEA ) Text Zoom §! i Settings A (ChoiceC ) Glycogen storage diseases cause defective metabolism of glycogen in the liver and/or muscles. The presentation can include hypoglycemia, lactic acidosis, hepatomegaly, growth retardation, and/or muscle fatigue/cramping. Cardiomegaly can occur with Pompe disease, but corneal clouding is not a feature. (Choice E ) Niemann-Pick disease results from a deficiency of sphingomyelinase, which leads to the accumulation of sphingomyelin within phagocytes. This disease is characterized by hepatosplenomegaly and progressive neurologic deterioration, but eye findings include a cherry-red spot on the macula, not corneal clouding. Educational objective : Hurler syndrome is a mucopolysaccharidosis caused by a deficiency of alpha-L-iduronidase, which hydrolyzes dermatan and heparan sulfate. Accumulation of these substances results in the characteristic features of intellectual disability, coarse facial features, corneal clouding, and hepatosplenomegaly. Early death due to cardiac complications (eg, myocardial infarction) is expected. References • Early disease progression of Hurler syndrome. Block Time Remaining:00:02:05 TUTOR https://t.me/USMLEWorldStep1 i Suspend O End Block — Item1 of1 QuestionW :21503 P'Mark <l Previous > Next r n L J Full Screen © Tutorial i Lab Values =* Notes Calculator Reverse Color CEA ) Text Zoom §! i Settings A (ChoiceC ) Glycogen storage diseases cause defective metabolism of glycogen in the liver and/or muscles. The presentation can include hypoglycemia, lactic acidosis, hepatomegaly, growth retardation, and/or muscle fatigue/cramping. Cardiomegaly can occur with Pompe disease, but corneal clouding is not a feature. (Choice E ) Niemann-Pick disease results from a deficiency of sphingomyelinase, which leads to the accumulation of sphingomyelin within phagocytes. This disease is characterized by hepatosplenomegaly and progressive neurologic deterioration, but eye findings include a cherry-red spot on the macula, not corneal clouding. Educational objective : Hurler syndrome is a mucopolysaccharidosis caused by a deficiency of alpha-L-iduronidase, which hydrolyzes dermatan and heparan sulfate. Accumulation of these substances results in the characteristic features of intellectual disability, coarse facial features, corneal clouding, and hepatosplenomegaly. Early death due to cardiac complications (eg, myocardial infarction) is expected. References • Early disease progression of Hurler syndrome. Block Time Remaining:00:02:05 TUTOR https://t.me/USMLEWorldStep1 i Suspend O End Block — Item1 of1 QuestionW :21503 P'Mark <l Previous > Next r n L J Full Screen © Tutorial i Lab Values =* Notes Calculator Reverse Color CEA ) Text Zoom §! i Settings A (ChoiceC ) Glycogen storage diseases cause defective metabolism of glycogen in the liver and/or muscles. The presentation can include hypoglycemia, lactic acidosis, hepatomegaly, growth retardation, and/or muscle fatigue/cramping. Cardiomegaly can occur with Pompe disease, but corneal clouding is not a feature. (Choice E ) Niemann-Pick disease results from a deficiency of sphingomyelinase, which leads to the accumulation of sphingomyelin within phagocytes. This disease is characterized by hepatosplenomegaly and progressive neurologic deterioration, but eye findings include a cherry-red spot on the macula, not corneal clouding. Educational objective : Hurler syndrome is a mucopolysaccharidosis caused by a deficiency of alpha-L-iduronidase, which hydrolyzes dermatan and heparan sulfate. Accumulation of these substances results in the characteristic features of intellectual disability, coarse facial features, corneal clouding, and hepatosplenomegaly. Early death due to cardiac complications (eg, myocardial infarction) is expected. References • Early disease progression of Hurler syndrome. Block Time Remaining:00:02:05 TUTOR https://t.me/USMLEWorldStep1 i Suspend O End Block — Item1 of1 QuestionW :21503 P'Mark <l Previous > Next r n L J Full Screen © Tutorial i Lab Values =* Notes Calculator Reverse Color CEA ) Text Zoom §! i Settings A (ChoiceC ) Glycogenstoragediseasescause defectivemetabolismof glycogenin the liverand/or , growthretardation, , lacticacidosis, hepatomegaly muscles. The presentationcan includehypoglycemia and/or musclefatigue/cramping. Cardiomegalycan occurwith Pompe disease, but cornealcloudingis not a feature. (Choice E ) Niemann-Pick disease resultsfrom a deficiencyof sphingomyelinase , whichleads to the accumulationof sphingomyelinwithinphagocytes. This disease is characterizedby hepatosplenomegaly and progressiveneurologicdeterioration , but eye findingsincludea cherry-red spot on the macula, not cornealclouding. Educational objective : Hurler syndromeis a mucopolysaccharidosis caused by a deficiencyof alpha-L-iduronidase, which hydrolyzesdermatanand heparan sulfate. Accumulationof these substancesresultsin the characteristic , coarse facialfeatures, cornealclouding , and hepatosplenomegaly . Early featuresof intellectualdisability death due to cardiaccomplications(eg, myocardialinfarction) is expected. References • Early diseaseprogressionof Hurler syndrome. Block Time Remaining:00:02:05 TUTOR https://t.me/USMLEWorldStep1 i Suspend O EndBlock — Item 1 of 1 Question W: 21503 P' Mark <l Previous > Next rn L J Full Screen © Tutorial i Lab Values =* Notes Calculator Reverse Color CEA) Text Zoom i§! Settings A ( Choice C ) Glycogen storage diseases cause defective metabolism of glycogen in the liver and/or muscles. The presentation can include hypoglycemia, lactic acidosis, hepatomegaly, growth retardation, and/or muscle fatigue/cramping. Cardiomegaly can occur with Pompe disease, but corneal clouding is not a feature. ( Choice E) Niemann-Pick disease results from a deficiency of sphingomyelinase, which leads to the accumulation of sphingomyelin within phagocytes. This disease is characterized by hepatosplenomegaly and progressive neurologic deterioration, but eye findings include a cherry-red spot on the macula, not corneal clouding. Educational objective: Hurler syndrome is a mucopolysaccharidosis caused by a deficiency of alpha-L-iduronidase, which hydrolyzes dermatan and heparan sulfate. Accumulation of these substances results in the characteristic features of intellectual disability, coarse facial features, corneal clouding, and hepatosplenomegaly. Early death due to cardiac complications (eg, myocardial infarction) is expected. References • Early disease progression of Hurler syndrome. Block Time Remaining: 00:02:05 TUTOR https://t.me/USMLEWorldStep1 i Suspend O End Block — Item1 of1 QuestionW :21503 P'Mark <l Previous > Next r n L J Full Screen © Tutorial i Lab Values =* Notes Calculator Reverse Color CEA ) Text Zoom §! i Settings A (ChoiceC ) Glycogenstoragediseasescause defectivemetabolismof glycogenin the liverand/or , growthretardation, , lacticacidosis, hepatomegaly muscles. The presentationcan includehypoglycemia and/or musclefatigue/cramping. Cardiomegalycan occurwith Pompe disease, but cornealcloudingis not a feature. (Choice E ) Niemann-Pick disease resultsfrom a deficiencyof sphingomyelinase , whichleads to the accumulationof sphingomyelinwithinphagocytes. This disease is characterizedby hepatosplenomegaly and progressiveneurologicdeterioration , but eye findingsincludea cherry-red spot on the macula, not cornealclouding. Educational objective : Hurler syndromeis a mucopolysaccharidosis caused by a deficiencyof alpha-L-iduronidase, which hydrolyzesdermatanand heparan sulfate. Accumulationof these substancesresultsin the characteristic , coarse facialfeatures, cornealclouding , and hepatosplenomegaly . Early featuresof intellectualdisability death due to cardiaccomplications(eg, myocardialinfarction) is expected. References • Early diseaseprogressionof Hurler syndrome. Block Time Remaining:00:02:05 TUTOR https://t.me/USMLEWorldStep1 i Suspend O EndBlock — Item1 of1 QuestionW :21503 P'Mark <l Previous > Next r n L J Full Screen © Tutorial i Lab Values =* Notes Calculator Reverse Color CEA ) Text Zoom §! i Settings A (ChoiceC ) Glycogenstoragediseasescause defectivemetabolismof glycogenin the liverand/or , growthretardation, , lacticacidosis, hepatomegaly muscles. The presentationcan includehypoglycemia and/or musclefatigue/cramping. Cardiomegalycan occurwith Pompe disease, but cornealcloudingis not a feature. (Choice E ) Niemann-Pick disease resultsfrom a deficiencyof sphingomyelinase , whichleads to the accumulationof sphingomyelinwithinphagocytes. This disease is characterizedby hepatosplenomegaly and progressiveneurologicdeterioration , but eye findingsincludea cherry-red spot on the macula, not cornealclouding. Educational objective : Hurler syndromeis a mucopolysaccharidosis caused by a deficiencyof alpha-L-iduronidase, which hydrolyzesdermatanand heparan sulfate. Accumulationof these substancesresultsin the characteristic , coarse facialfeatures, cornealclouding , and hepatosplenomegaly . Early featuresof intellectualdisability death due to cardiaccomplications(eg, myocardialinfarction) is expected. References • Early diseaseprogressionof Hurler syndrome. Block Time Remaining:00:02:05 TUTOR https://t.me/USMLEWorldStep1 i Suspend O EndBlock — Item 1 of 1 Question W: 21503 P' Mark <l Previous > Next rn L J Full Screen © Tutorial i Lab Values =* Notes Calculator Reverse Color CEA) Text Zoom i§! Settings A ( Choice C ) Glycogen storage diseases cause defective metabolism of glycogen in the liver and/or muscles. The presentation can include hypoglycemia, lactic acidosis, hepatomegaly, growth retardation, and/or muscle fatigue/cramping. Cardiomegaly can occur with Pompe disease, but corneal clouding is not a feature. ( Choice E) Niemann-Pick disease results from a deficiency of sphingomyelinase, which leads to the accumulation of sphingomyelin within phagocytes. This disease is characterized by hepatosplenomegaly and progressive neurologic deterioration, but eye findings include a cherry-red spot on the macula, not corneal clouding. Educational objective: Hurler syndrome is a mucopolysaccharidosis caused by a deficiency of alpha-L-iduronidase, which hydrolyzes dermatan and heparan sulfate. Accumulation of these substances results in the characteristic features of intellectual disability, coarse facial features, corneal clouding, and hepatosplenomegaly. Early death due to cardiac complications (eg, myocardial infarction) is expected. References • Early disease progression of Hurler syndrome. Block Time Remaining: 00:02:05 TUTOR https://t.me/USMLEWorldStep1 i Suspend O End Block — Item 1 of 1 Question W: 21503 P' Mark <l Previous > Next r n L J Full Screen © Tutorial i Lab Values =* Notes Calculator Reverse Color CEA ) Text Zoom i§! Settings A ( Choice C ) Glycogenstoragediseasescause defectivemetabolismof glycogenin the liverand/or , growthretardation, , lacticacidosis, hepatomegaly muscles. The presentationcan includehypoglycemia and/or musclefatigue/cramping. Cardiomegalycan occurwith Pompe disease, but cornealcloudingis not a feature. ( Choice E) Niemann-Pick disease resultsfrom a deficiencyof sphingomyelinase , whichleads to the accumulationof sphingomyelinwithinphagocytes. This disease is characterizedby hepatosplenomegaly and progressiveneurologicdeterioration , but eye findingsincludea cherry-red spot on the macula, not cornealclouding. Educational objective : Hurler syndromeis a mucopolysaccharidosis caused by a deficiencyof alpha-L-iduronidase, which hydrolyzesdermatanand heparan sulfate. Accumulationof these substancesresultsin the characteristic , coarse facialfeatures, cornealclouding , and hepatosplenomegaly . Early featuresof intellectualdisability death due to cardiaccomplications(eg, myocardialinfarction) is expected. References • Early diseaseprogressionof Hurler syndrome. Block Time Remaining : 00:02: 05 TUTOR https://t.me/USMLEWorldStep1 i Suspend O EndBlock — Item 1 of 1 Question W: 21503 P' Mark <l Previous > Next r n L J Full Screen © Tutorial i Lab Values =* Notes Calculator Reverse Color CEA) Text Zoom i§! Settings A ( Choice C ) Glycogen storage diseases cause defective metabolism of glycogen in the liver and /or muscles . The presentation can include hypoglycemia , lactic acidosis , hepatomegaly , growth retardation, and /or muscle fatigue /cramping. Cardiomegaly can occur with Pompe disease , but corneal clouding is not a feature. ( Choice E) Niemann -Pick disease results from a deficiency of sphingomyelinase , which leads to the accumulation of sphingomyelin within phagocytes . This disease is characterized by hepatosplenomegaly and progressive neurologic deterioration, but eye findings include a cherry-red spot on the macula , not corneal clouding . Educational objective: Hurler syndrome is a mucopolysaccharidosis caused by a deficiency of alpha -L-iduronidase , which hydrolyzes dermatan and heparan sulfate . Accumulation of these substances results in the characteristic features of intellectual disability, coarse facial features , corneal clouding, and hepatosplenomegaly . Early death due to cardiac complications (eg , myocardial infarction) is expected . References • Early disease progression of Hurler syndrome . Block Time Remaining: 00:02:05 TUTOR https://t.me /USMLEWorldStep1 i Suspend O End Block — Item1 of1 QuestionW :21503 P'Mark <l Previous > Next r n L J Full Screen © Tutorial i Lab Values =* Notes Calculator Reverse Color CEA ) Text Zoom §! i Settings A (ChoiceC ) Glycogen storage diseases cause defective metabolism of glycogen in the liver and/or muscles. The presentation can include hypoglycemia, lactic acidosis, hepatomegaly, growth retardation, and/or muscle fatigue/cramping. Cardiomegaly can occur with Pompe disease, but corneal clouding is not a feature. (Choice E ) Niemann-Pick disease results from a deficiency of sphingomyelinase, which leads to the accumulation of sphingomyelin within phagocytes. This disease is characterized by hepatosplenomegaly and progressive neurologic deterioration, but eye findings include a cherry-red spot on the macula, not corneal clouding. Educational objective : Hurler syndrome is a mucopolysaccharidosis caused by a deficiency of alpha-L-iduronidase, which hydrolyzes dermatan and heparan sulfate. Accumulation of these substances results in the characteristic features of intellectual disability, coarse facial features, corneal clouding, and hepatosplenomegaly. Early death due to cardiac complications (eg, myocardial infarction) is expected. References • Early disease progression of Hurler syndrome. Block Time Remaining:00:02:05 TUTOR https://t.me/USMLEWorldStep1 i Suspend O End Block — Item 1 of 1 Question W: 21503 P' Mark <l > Previous Next r n L J Full Screen © Tutorial i LabValues =* Notes Calculator ReverseColor CEA) TextZoom i§! Settings A ( Choice C ) Glycogenstorage diseases ofglycogen intheliver causedefective metabolism and/or hypoglycemia ,growthretardation , . The presentation ,lactic muscles acidosis can include ,hepatomegaly /cramping canoccurwithPompe disease and/ormusclefatigue isnot ,butcorneal clouding . Cardiomegaly a feature . ( Choice E) Niemann-Pickdiseaseresults ,whichleadstothe froma deficiency ofsphingomyelinase accumulation ofsphingomyelin phagocytes by hepatosplenomegaly within . Thisdiseaseischaracterized neurologic a cherry and progressive deterioration include ,buteye findings -redspoton themacula,not clouding corneal . Educational objective: ,which syndromeisa mucopolysaccharidosis Hurler ofalpha causedby a deficiency -L-iduronidase hydrolyzes results ofthesesubstances dermatanand heparansulfate inthecharacteristic . Accumulation ofintellectual features ,coarsefacial disability clouding ,corneal ,and hepatosplenomegaly . Early features (eg,myocardial )isexpected complications deathdue tocardiac infarction . References ofHurler syndrome. • Earlydiseaseprogression Block Time Remaining: 00:02:05 TUTOR https ://t.me /USMLEWorldStep1 i O Suspend End Block — Item1 of1 QuestionW :21503 P'Mark <l Previous > Next r n L J Full Screen © Tutorial i Lab Values =* Notes Calculator Reverse Color CEA ) Text Zoom §! i Settings A (ChoiceC ) Glycogen storage diseases cause defective metabolism of glycogen in the liver and/or muscles. The presentation can include hypoglycemia, lactic acidosis, hepatomegaly, growth retardation, and/or muscle fatigue/cramping. Cardiomegaly can occur with Pompe disease, but corneal clouding is not a feature. (Choice E ) Niemann-Pick disease results from a deficiency of sphingomyelinase, which leads to the accumulation of sphingomyelin within phagocytes. This disease is characterized by hepatosplenomegaly and progressive neurologic deterioration, but eye findings include a cherry-red spot on the macula, not corneal clouding. Educational objective : Hurler syndrome is a mucopolysaccharidosis caused by a deficiency of alpha-L-iduronidase, which hydrolyzes dermatan and heparan sulfate. Accumulation of these substances results in the characteristic features of intellectual disability, coarse facial features, corneal clouding, and hepatosplenomegaly. Early death due to cardiac complications (eg, myocardial infarction) is expected. References • Early disease progression of Hurler syndrome. Block Time Remaining:00:02:05 TUTOR https://t.me/USMLEWorldStep1 i Suspend O End Block — Item1 of1 QuestionW :21503 P'Mark <l Previous > Next r n L J Full Screen © Tutorial i Lab Values =* Notes Calculator Reverse Color CEA ) Text Zoom §! i Settings A (ChoiceC ) Glycogenstoragediseasescause defectivemetabolismof glycogenin the liverand/or , growthretardation, , lacticacidosis, hepatomegaly muscles. The presentationcan includehypoglycemia and/or musclefatigue/cramping. Cardiomegalycan occurwith Pompe disease, but cornealcloudingis not a feature. (Choice E ) Niemann-Pick disease resultsfrom a deficiencyof sphingomyelinase , whichleads to the accumulationof sphingomyelinwithinphagocytes. This disease is characterizedby hepatosplenomegaly and progressiveneurologicdeterioration , but eye findingsincludea cherry-red spot on the macula, not cornealclouding. Educational objective : Hurler syndromeis a mucopolysaccharidosis caused by a deficiencyof alpha-L-iduronidase, which hydrolyzesdermatanand heparan sulfate. Accumulationof these substancesresultsin the characteristic , coarse facialfeatures, cornealclouding , and hepatosplenomegaly . Early featuresof intellectualdisability death due to cardiaccomplications(eg, myocardialinfarction) is expected. References • Early diseaseprogressionof Hurler syndrome. Block Time Remaining:00:02:05 TUTOR https://t.me/USMLEWorldStep1 i Suspend O EndBlock — Item 1 of 1 Question W: 21503 P' Mark <l Previous > Next rn L J Full Screen © Tutorial i Lab Values =* Notes Calculator Reverse Color CEA) Text Zoom i§! Settings A ( Choice C ) Glycogen storage diseases cause defective metabolism of glycogen in the liver and/or muscles. The presentation can include hypoglycemia, lactic acidosis, hepatomegaly, growth retardation, and/or muscle fatigue/cramping. Cardiomegaly can occur with Pompe disease, but corneal clouding is not a feature. ( Choice E) Niemann-Pick disease results from a deficiency of sphingomyelinase, which leads to the accumulation of sphingomyelin within phagocytes. This disease is characterized by hepatosplenomegaly and progressive neurologic deterioration, but eye findings include a cherry-red spot on the macula, not corneal clouding. Educational objective: Hurler syndrome is a mucopolysaccharidosis caused by a deficiency of alpha-L-iduronidase, which hydrolyzes dermatan and heparan sulfate. Accumulation of these substances results in the characteristic features of intellectual disability, coarse facial features, corneal clouding, and hepatosplenomegaly. Early death due to cardiac complications (eg, myocardial infarction) is expected. References • Early disease progression of Hurler syndrome. Block Time Remaining: 00:02:05 TUTOR https://t.me/USMLEWorldStep1 i Suspend O End Block — Item 1 of 1 Question W: 21503 P' Mark <l Previous > Next r n L J Full Screen © Tutorial i Lab Values =* Notes Calculator Reverse Color CEA) Text Zoom i§! Settings A ( Choice C ) Glycogen storage diseases cause defective metabolism of glycogen in the liver and /or muscles . The presentation can include hypoglycemia , lactic acidosis , hepatomegaly , growth retardation , and /or muscle fatigue /cramping . Cardiomegaly can occur with Pompe disease , but corneal clouding is not a feature . ( Choice E) Niemann -Pick disease results from a deficiency of sphingomyelinase , which leads to the accumulation of sphingomyelin within phagocytes . This disease is characterized by hepatosplenomegaly and progressive neurologic deterioration , but eye findings include a cherry -red spot on the macula , not corneal clouding . Educational objective: Hurler syndrome is a mucopolysaccharidosis caused by a deficiency of alpha -L-iduronidase , which hydrolyzes dermatan and heparan sulfate . Accumulation of these substances results in the characteristic features of intellectual disability, coarse facial features , corneal clouding , and hepatosplenomegaly . Early death due to cardiac complications (eg , myocardial infarction ) is expected . References • Early disease progression of Hurler syndrome Block Time Remaining: 00:02:05 TUTOR . https ://t.me /USMLEWorldStep 1 i Suspend O End Block — Item1 of1 QuestionW :21503 P'Mark <l Previous > Next r n L J Full Screen © Tutorial i Lab Values =* Notes Calculator Reverse Color CEA ) Text Zoom §! i Settings A (ChoiceC ) Glycogenstoragediseasescause defectivemetabolismof glycogenin the liverand/or , growthretardation, , lacticacidosis, hepatomegaly muscles. The presentationcan includehypoglycemia and/or musclefatigue/cramping. Cardiomegalycan occurwith Pompe disease, but cornealcloudingis not a feature. (Choice E ) Niemann-Pick disease resultsfrom a deficiencyof sphingomyelinase , whichleads to the accumulationof sphingomyelinwithinphagocytes. This disease is characterizedby hepatosplenomegaly and progressiveneurologicdeterioration , but eye findingsincludea cherry-red spot on the macula, not cornealclouding. Educational objective : Hurler syndromeis a mucopolysaccharidosis caused by a deficiencyof alpha-L-iduronidase, which hydrolyzesdermatanand heparan sulfate. Accumulationof these substancesresultsin the characteristic , coarse facialfeatures, cornealclouding , and hepatosplenomegaly . Early featuresof intellectualdisability death due to cardiaccomplications(eg, myocardialinfarction) is expected. References • Early diseaseprogressionof Hurler syndrome. Block Time Remaining:00:02:05 TUTOR https://t.me/USMLEWorldStep1 i Suspend O EndBlock — Item 1 of 1 Question W: 21503 P' Mark <l Previous > Next rn L J Full Screen © Tutorial i Lab Values =* Notes Calculator Reverse Color CEA) Text Zoom i§! Settings A ( Choice C ) Glycogen storage diseases cause defective metabolism of glycogen in the liver and/or muscles. The presentation can include hypoglycemia, lactic acidosis, hepatomegaly, growth retardation, and/or muscle fatigue/cramping. Cardiomegaly can occur with Pompe disease, but corneal clouding is not a feature. ( Choice E) Niemann-Pick disease results from a deficiency of sphingomyelinase, which leads to the accumulation of sphingomyelin within phagocytes. This disease is characterized by hepatosplenomegaly and progressive neurologic deterioration, but eye findings include a cherry-red spot on the macula, not corneal clouding. Educational objective: Hurler syndrome is a mucopolysaccharidosis caused by a deficiency of alpha-L-iduronidase, which hydrolyzes dermatan and heparan sulfate. Accumulation of these substances results in the characteristic features of intellectual disability, coarse facial features, corneal clouding, and hepatosplenomegaly. Early death due to cardiac complications (eg, myocardial infarction) is expected. References • Early disease progression of Hurler syndrome. Block Time Remaining: 00:02:05 TUTOR https://t.me/USMLEWorldStep1 i Suspend O End Block — Item 1 of 1 Question W: 21503 P' Mark <l Previous > Next rn L J Full Screen © Tutorial i Lab Values =* Notes Calculator Reverse Color CEA) Text Zoom i§! Settings A ( Choice C ) Glycogen storage diseases cause defective metabolism of glycogen in the liver and/or muscles. The presentation can include hypoglycemia, lactic acidosis, hepatomegaly, growth retardation, and/or muscle fatigue/cramping. Cardiomegaly can occur with Pompe disease, but corneal clouding is not a feature. ( Choice E) Niemann-Pick disease results from a deficiency of sphingomyelinase, which leads to the accumulation of sphingomyelin within phagocytes. This disease is characterized by hepatosplenomegaly and progressive neurologic deterioration, but eye findings include a cherry-red spot on the macula, not corneal clouding. Educational objective: Hurler syndrome is a mucopolysaccharidosis caused by a deficiency of alpha-L-iduronidase, which hydrolyzes dermatan and heparan sulfate. Accumulation of these substances results in the characteristic features of intellectual disability, coarse facial features, corneal clouding, and hepatosplenomegaly. Early death due to cardiac complications (eg, myocardial infarction) is expected. References • Early disease progression of Hurler syndrome. Block Time Remaining: 00:02:05 TUTOR https://t.me/USMLEWorldStep1 i Suspend O End Block — Item1 of1 QuestionW :21503 P'Mark <l Previous > Next r n L J Full Screen © Tutorial i Lab Values =* Notes Calculator Reverse Color CEA ) Text Zoom §! i Settings A (ChoiceC ) Glycogen storage diseases cause defective metabolism of glycogen in the liver and /or muscles . The presentation can include hypoglycemia , lactic acidosis , hepatomegaly , growth retardation, and /or muscle fatigue /cramping. Cardiomegaly can occur with Pompe disease , but corneal clouding is not a feature. (Choice E ) Niemann -Pick disease results from a deficiency of sphingomyelinase , which leads to the accumulation of sphingomyelin within phagocytes . This disease is characterized by hepatosplenomegaly and progressive neurologic deterioration, but eye findings include a cherry-red spot on the macula , not corneal clouding . Educational objective : Hurler syndrome is a mucopolysaccharidosis caused by a deficiency of alpha -L-iduronidase , which hydrolyzes dermatan and heparan sulfate . Accumulation of these substances results in the characteristic features of intellectual disability, coarse facial features , corneal clouding, and hepatosplenomegaly . Early death due to cardiac complications (eg , myocardial infarction) is expected . References • Early disease progression of Hurler syndrome . Block Time Remaining:00:02:05 TUTOR https://t.me /USMLEWorldStep1 i Suspend O End Block — Item1 of1 QuestionW :21503 P'Mark <l Previous > Next r n L J Full Screen © Tutorial i Lab Values =* Notes Calculator Reverse Color CEA ) Text Zoom §! i Settings A (ChoiceC ) Glycogen storage diseases cause defective metabolism of glycogen in the liver and/or muscles. The presentation can include hypoglycemia, lactic acidosis, hepatomegaly, growth retardation, and/or muscle fatigue/cramping. Cardiomegaly can occur with Pompe disease, but corneal clouding is not a feature. (Choice E ) Niemann-Pick disease results from a deficiency of sphingomyelinase, which leads to the accumulation of sphingomyelin within phagocytes. This disease is characterized by hepatosplenomegaly and progressive neurologic deterioration, but eye findings include a cherry-red spot on the macula, not corneal clouding. Educational objective : Hurler syndrome is a mucopolysaccharidosis caused by a deficiency of alpha-L-iduronidase, which hydrolyzes dermatan and heparan sulfate. Accumulation of these substances results in the characteristic features of intellectual disability, coarse facial features, corneal clouding, and hepatosplenomegaly. Early death due to cardiac complications (eg, myocardial infarction) is expected. References • Early disease progression of Hurler syndrome. Block Time Remaining:00:02:05 TUTOR https://t.me/USMLEWorldStep1 i Suspend O End Block — Item1 of1 QuestionW :21503 P'Mark <l Previous > Next r n L J Full Screen © Tutorial i Lab Values =* Notes Calculator Reverse Color CEA ) Text Zoom §! i Settings A (ChoiceC ) Glycogen storage diseases cause defective metabolism of glycogen in the liver and/or muscles. The presentation can include hypoglycemia, lactic acidosis, hepatomegaly, growth retardation, and/or muscle fatigue/cramping. Cardiomegaly can occur with Pompe disease, but corneal clouding is not a feature. (Choice E ) Niemann-Pick disease results from a deficiency of sphingomyelinase, which leads to the accumulation of sphingomyelin within phagocytes. This disease is characterized by hepatosplenomegaly and progressive neurologic deterioration, but eye findings include a cherry-red spot on the macula, not corneal clouding. Educational objective : Hurler syndrome is a mucopolysaccharidosis caused by a deficiency of alpha-L-iduronidase, which hydrolyzes dermatan and heparan sulfate. Accumulation of these substances results in the characteristic features of intellectual disability, coarse facial features, corneal clouding, and hepatosplenomegaly. Early death due to cardiac complications (eg, myocardial infarction) is expected. References • Early disease progression of Hurler syndrome. Block Time Remaining:00:02:05 TUTOR https://t.me/USMLEWorldStep1 i Suspend O End Block — Item1 of1 QuestionW :21503 P'Mark <l Previous > Next r n L J Full Screen © Tutorial i Lab Values =* Notes Calculator Reverse Color CEA ) Text Zoom §! i Settings A (ChoiceC ) Glycogen storage diseases cause defective metabolism of glycogen in the liver and /or muscles . The presentation can include hypoglycemia , lactic acidosis , hepatomegaly , growth retardation, and /or muscle fatigue /cramping. Cardiomegaly can occur with Pompe disease , but corneal clouding is not a feature. (Choice E ) Niemann -Pick disease results from a deficiency of sphingomyelinase , which leads to the accumulation of sphingomyelin within phagocytes . This disease is characterized by hepatosplenomegaly and progressive neurologic deterioration, but eye findings include a cherry-red spot on the macula , not corneal clouding . Educational objective : Hurler syndrome is a mucopolysaccharidosis caused by a deficiency of alpha -L-iduronidase , which hydrolyzes dermatan and heparan sulfate . Accumulation of these substances results in the characteristic features of intellectual disability, coarse facial features , corneal clouding, and hepatosplenomegaly . Early death due to cardiac complications (eg , myocardial infarction) is expected . References • Early disease progression of Hurler syndrome . Block Time Remaining:00:02:05 TUTOR https://t.me /USMLEWorldStep1 i Suspend O End Block — Item 1 of 1 Question W: 21503 P' Mark <l Previous > Next rn L J Full Screen © Tutorial i Lab Values =* Notes Calculator Reverse Color CEA) Text Zoom i§! Settings A ( Choice C ) Glycogen storage diseases cause defective metabolism of glycogen in the liver and /or muscles . The presentation can include hypoglycemia , lactic acidosis , hepatomegaly , growth retardation, and /or muscle fatigue /cramping. Cardiomegaly can occur with Pompe disease , but corneal clouding is not a feature. ( Choice E) Niemann -Pick disease results from a deficiency of sphingomyelinase , which leads to the accumulation of sphingomyelin within phagocytes . This disease is characterized by hepatosplenomegaly and progressive neurologic deterioration, but eye findings include a cherry-red spot on the macula , not corneal clouding . Educational objective: Hurler syndrome is a mucopolysaccharidosis caused by a deficiency of alpha -L-iduronidase , which hydrolyzes dermatan and heparan sulfate . Accumulation of these substances results in the characteristic features of intellectual disability, coarse facial features , corneal clouding, and hepatosplenomegaly . Early death due to cardiac complications (eg , myocardial infarction) is expected . References • Early disease progression of Hurler syndrome . Block Time Remaining: 00:02:05 TUTOR https://t.me /USMLEWorldStep1 i Suspend O End Block — Item1 of1 QuestionW :21503 P'Mark <l Previous > Next r n L J Full Screen © Tutorial i Lab Values =* Notes Calculator Reverse Color CEA ) Text Zoom §! i Settings A (ChoiceC ) Glycogen storage diseases cause defective metabolism of glycogen in the liver and /or muscles . The presentation can include hypoglycemia , lactic acidosis , hepatomegaly , growth retardation, and /or muscle fatigue /cramping. Cardiomegaly can occur with Pompe disease , but corneal clouding is not a feature. (Choice E ) Niemann -Pick disease results from a deficiency of sphingomyelinase , which leads to the accumulation of sphingomyelin within phagocytes . This disease is characterized by hepatosplenomegaly and progressive neurologic deterioration, but eye findings include a cherry-red spot on the macula , not corneal clouding . Educational objective : Hurler syndrome is a mucopolysaccharidosis caused by a deficiency of alpha -L-iduronidase , which hydrolyzes dermatan and heparan sulfate . Accumulation of these substances results in the characteristic features of intellectual disability, coarse facial features , corneal clouding, and hepatosplenomegaly . Early death due to cardiac complications (eg , myocardial infarction) is expected . References • Early disease progression of Hurler syndrome . Block Time Remaining:00:02:05 TUTOR https://t.me /USMLEWorldStep1 i Suspend O End Block — Item1 of1 QuestionW :21503 P'Mark <l Previous > Next r n L J Full Screen © Tutorial i Lab Values =* Notes Calculator Reverse Color CEA ) Text Zoom §! i Settings A (ChoiceC ) Glycogen storage diseases cause defective metabolism of glycogen in the liver and /or muscles . The presentation can include hypoglycemia , lactic acidosis , hepatomegaly , growth retardation, and /or muscle fatigue /cramping. Cardiomegaly can occur with Pompe disease , but corneal clouding is not a feature. (Choice E ) Niemann -Pick disease results from a deficiency of sphingomyelinase , which leads to the accumulation of sphingomyelin within phagocytes . This disease is characterized by hepatosplenomegaly and progressive neurologic deterioration, but eye findings include a cherry-red spot on the macula , not corneal clouding . Educational objective : Hurler syndrome is a mucopolysaccharidosis caused by a deficiency of alpha -L-iduronidase , which hydrolyzes dermatan and heparan sulfate . Accumulation of these substances results in the characteristic features of intellectual disability, coarse facial features , corneal clouding, and hepatosplenomegaly . Early death due to cardiac complications (eg , myocardial infarction) is expected . References • Early disease progression of Hurler syndrome . Block Time Remaining:00:02:05 TUTOR https://t.me /USMLEWorldStep1 i Suspend O End Block — Item 1 of 1 Question W: 21503 P' Mark <l Previous > Next rn L J Full Screen © Tutorial i Lab Values =* Notes Calculator Reverse Color CEA) Text Zoom i§! Settings A ( Choice C ) Glycogen storage diseases cause defective metabolism of glycogen in the liver and /or muscles . The presentation can include hypoglycemia , lactic acidosis , hepatomegaly , growth retardation, and /or muscle fatigue /cramping. Cardiomegaly can occur with Pompe disease , but corneal clouding is not a feature. ( Choice E) Niemann -Pick disease results from a deficiency of sphingomyelinase , which leads to the accumulation of sphingomyelin within phagocytes . This disease is characterized by hepatosplenomegaly and progressive neurologic deterioration, but eye findings include a cherry-red spot on the macula , not corneal clouding . Educational objective: Hurler syndrome is a mucopolysaccharidosis caused by a deficiency of alpha -L-iduronidase , which hydrolyzes dermatan and heparan sulfate . Accumulation of these substances results in the characteristic features of intellectual disability, coarse facial features , corneal clouding, and hepatosplenomegaly . Early death due to cardiac complications (eg , myocardial infarction) is expected . References • Early disease progression of Hurler syndrome . Block Time Remaining: 00:02:05 TUTOR https://t.me /USMLEWorldStep1 i Suspend O End Block — Item1 of1 QuestionW :21503 P'Mark <l Previous > Next r n L J Full Screen © Tutorial i Lab Values =* Notes Calculator Reverse Color CEA ) Text Zoom §! i Settings A (ChoiceC ) Glycogen storage diseases cause defective metabolism of glycogen in the liver and /or muscles . The presentation can include hypoglycemia , lactic acidosis , hepatomegaly , growth retardation, and /or muscle fatigue /cramping. Cardiomegaly can occur with Pompe disease , but corneal clouding is not a feature. (Choice E ) Niemann -Pick disease results from a deficiency of sphingomyelinase , which leads to the accumulation of sphingomyelin within phagocytes . This disease is characterized by hepatosplenomegaly and progressive neurologic deterioration, but eye findings include a cherry-red spot on the macula , not corneal clouding . Educational objective : Hurler syndrome is a mucopolysaccharidosis caused by a deficiency of alpha -L-iduronidase , which hydrolyzes dermatan and heparan sulfate . Accumulation of these substances results in the characteristic features of intellectual disability, coarse facial features , corneal clouding, and hepatosplenomegaly . Early death due to cardiac complications (eg , myocardial infarction) is expected . References • Early disease progression of Hurler syndrome . Block Time Remaining:00:02:05 TUTOR https://t.me /USMLEWorldStep1 i Suspend O End Block — Item1 of1 QuestionW :21503 P'Mark <l Previous > Next r n L J Full Screen © Tutorial i Lab Values =* Notes Calculator Reverse Color CEA ) Text Zoom §! i Settings A (ChoiceC ) Glycogen storage diseases cause defective metabolism of glycogen in the liver and /or muscles . The presentation can include hypoglycemia , lactic acidosis , hepatomegaly , growth retardation, and /or muscle fatigue /cramping. Cardiomegaly can occur with Pompe disease , but corneal clouding is not a feature. (Choice E ) Niemann -Pick disease results from a deficiency of sphingomyelinase , which leads to the accumulation of sphingomyelin within phagocytes . This disease is characterized by hepatosplenomegaly and progressive neurologic deterioration, but eye findings include a cherry-red spot on the macula , not corneal clouding . Educational objective : Hurler syndrome is a mucopolysaccharidosis caused by a deficiency of alpha -L-iduronidase , which hydrolyzes dermatan and heparan sulfate . Accumulation of these substances results in the characteristic features of intellectual disability, coarse facial features , corneal clouding, and hepatosplenomegaly . Early death due to cardiac complications (eg , myocardial infarction) is expected . References • Early disease progression of Hurler syndrome . Block Time Remaining:00:02:05 TUTOR https://t.me /USMLEWorldStep1 i Suspend O End Block — Item 1 of 1 Question W: 21503 P' Mark <l Previous > Next rn L J Full Screen © Tutorial i Lab Values =* Notes Calculator Reverse Color CEA) Text Zoom i§! Settings A ( Choice C ) Glycogen storage diseases cause defective metabolism of glycogen in the liver and/or muscles. The presentation can include hypoglycemia, lactic acidosis, hepatomegaly, growth retardation, and/or muscle fatigue/cramping. Cardiomegaly can occur with Pompe disease, but corneal clouding is not a feature. ( Choice E) Niemann-Pick disease results from a deficiency of sphingomyelinase, which leads to the accumulation of sphingomyelin within phagocytes. This disease is characterized by hepatosplenomegaly and progressive neurologic deterioration, but eye findings include a cherry-red spot on the macula, not corneal clouding. Educational objective: Hurler syndrome is a mucopolysaccharidosis caused by a deficiency of alpha-L-iduronidase, which hydrolyzes dermatan and heparan sulfate. Accumulation of these substances results in the characteristic features of intellectual disability, coarse facial features, corneal clouding, and hepatosplenomegaly. Early death due to cardiac complications (eg, myocardial infarction) is expected. References • Early disease progression of Hurler syndrome. Block Time Remaining: 00:02:05 TUTOR https://t.me/USMLEWorldStep1 i Suspend O End Block — Item 1 of 1 Question W: 21503 P' Mark <l Previous > Next r n L J Full Screen © Tutorial i Lab Values =* Notes Calculator Reverse Color CEA) Text Zoom i§! Settings A ( Choice C ) Glycogen storage diseases cause defective metabolism of glycogen in the liver and/or muscles. The presentation can include hypoglycemia, lactic acidosis, hepatomegaly, growth retardation, and/or muscle fatigue/cramping. Cardiomegaly can occur with Pompe disease, but corneal clouding is not a feature. ( Choice E) Niemann-Pick disease results from a deficiency of sphingomyelinase, which leads to the accumulation of sphingomyelin within phagocytes. This disease is characterized by hepatosplenomegaly and progressive neurologic deterioration, but eye findings include a cherry-red spot on the macula, not corneal clouding. Educational objective: Hurler syndrome is a mucopolysaccharidosis caused by a deficiency of alpha-L-iduronidase, which hydrolyzes dermatan and heparan sulfate. Accumulation of these substances results in the characteristic features of intellectual disability, coarse facial features, corneal clouding, and hepatosplenomegaly. Early death due to cardiac complications (eg, myocardial infarction) is expected. References • Early disease progression of Hurler syndrome. Block Time Remaining: 00:02:05 TUTOR https://t.me/USMLEWorldStep1 i Suspend O End Block — Item 1 of 1 Question W: 21503 P' Mark <l Previous > Next rn L J Full Screen © Tutorial i Lab Values =* Notes Calculator Reverse Color CEA) Text Zoom i§! Settings A ( Choice C ) Glycogen storage diseases cause defective metabolism of glycogen in the liver and/or muscles. The presentation can include hypoglycemia, lactic acidosis, hepatomegaly, growth retardation, and/or muscle fatigue/cramping. Cardiomegaly can occur with Pompe disease, but corneal clouding is not a feature. ( Choice E) Niemann-Pick disease results from a deficiency of sphingomyelinase, which leads to the accumulation of sphingomyelin within phagocytes. This disease is characterized by hepatosplenomegaly and progressive neurologic deterioration, but eye findings include a cherry-red spot on the macula, not corneal clouding. Educational objective: Hurler syndrome is a mucopolysaccharidosis caused by a deficiency of alpha-L-iduronidase, which hydrolyzes dermatan and heparan sulfate. Accumulation of these substances results in the characteristic features of intellectual disability, coarse facial features, corneal clouding, and hepatosplenomegaly. Early death due to cardiac complications (eg, myocardial infarction) is expected. References • Early disease progression of Hurler syndrome. Block Time Remaining: 00:02:05 TUTOR https://t.me/USMLEWorldStep1 i Suspend O End Block — Item 1 of 1 Question W: 21503 P' Mark <l Previous > Next rn L J Full Screen © Tutorial i Lab Values =* Notes Calculator Reverse Color CEA) Text Zoom i§! Settings A ( Choice C ) Glycogen storage diseases cause defective metabolism of glycogen in the liver and/or muscles. The presentation can include hypoglycemia, lactic acidosis, hepatomegaly, growth retardation, and/or muscle fatigue/cramping. Cardiomegaly can occur with Pompe disease, but corneal clouding is not a feature. ( Choice E) Niemann-Pick disease results from a deficiency of sphingomyelinase, which leads to the accumulation of sphingomyelin within phagocytes. This disease is characterized by hepatosplenomegaly and progressive neurologic deterioration, but eye findings include a cherry-red spot on the macula, not corneal clouding. Educational objective: Hurler syndrome is a mucopolysaccharidosis caused by a deficiency of alpha-L-iduronidase, which hydrolyzes dermatan and heparan sulfate. Accumulation of these substances results in the characteristic features of intellectual disability, coarse facial features, corneal clouding, and hepatosplenomegaly. Early death due to cardiac complications (eg, myocardial infarction) is expected. References • Early disease progression of Hurler syndrome. Block Time Remaining: 00:02:05 TUTOR https://t.me/USMLEWorldStep1 i Suspend O End Block — Item 1 of 1 Question W: 21503 P' Mark <l Previous > Next rn L J Full Screen © Tutorial i Lab Values =* Notes Calculator Reverse Color CEA) Text Zoom i§! Settings A ( Choice C ) Glycogen storage diseases cause defective metabolism of glycogen in the liver and /or muscles . The presentation can include hypoglycemia , lactic acidosis , hepatomegaly , growth retardation, and /or muscle fatigue /cramping. Cardiomegaly can occur with Pompe disease , but corneal clouding is not a feature. ( Choice E) Niemann -Pick disease results from a deficiency of sphingomyelinase , which leads to the accumulation of sphingomyelin within phagocytes . This disease is characterized by hepatosplenomegaly and progressive neurologic deterioration, but eye findings include a cherry-red spot on the macula , not corneal clouding . Educational objective: Hurler syndrome is a mucopolysaccharidosis caused by a deficiency of alpha -L-iduronidase , which hydrolyzes dermatan and heparan sulfate . Accumulation of these substances results in the characteristic features of intellectual disability, coarse facial features , corneal clouding, and hepatosplenomegaly . Early death due to cardiac complications (eg , myocardial infarction) is expected . References • Early disease progression of Hurler syndrome . Block Time Remaining: 00:02:05 TUTOR https://t.me /USMLEWorldStep1 i Suspend O End Block — Item 1 of 1 Question W: 21503 P' Mark <l Previous > Next rn L J Full Screen © Tutorial i Lab Values =* Notes Calculator Reverse Color CEA) Text Zoom i§! Settings A ( Choice C ) Glycogen storage diseases cause defective metabolism of glycogen in the liver and /or muscles . The presentation can include hypoglycemia , lactic acidosis , hepatomegaly , growth retardation, and /or muscle fatigue /cramping. Cardiomegaly can occur with Pompe disease , but corneal clouding is not a feature. ( Choice E) Niemann -Pick disease results from a deficiency of sphingomyelinase , which leads to the accumulation of sphingomyelin within phagocytes . This disease is characterized by hepatosplenomegaly and progressive neurologic deterioration, but eye findings include a cherry-red spot on the macula , not corneal clouding . Educational objective: Hurler syndrome is a mucopolysaccharidosis caused by a deficiency of alpha -L-iduronidase , which hydrolyzes dermatan and heparan sulfate . Accumulation of these substances results in the characteristic features of intellectual disability, coarse facial features , corneal clouding, and hepatosplenomegaly . Early death due to cardiac complications (eg , myocardial infarction) is expected . References • Early disease progression of Hurler syndrome . Block Time Remaining: 00:02:05 TUTOR https://t.me /USMLEWorldStep1 i Suspend O End Block — Item 1 of 1 Question W: 21503 P' Mark <l Previous > Next rn L J Full Screen © Tutorial i Lab Values =* Notes Calculator Reverse Color CEA) Text Zoom i§! Settings A ( Choice C ) Glycogen storage diseases cause defective metabolism of glycogen in the liver and/or muscles. The presentation can include hypoglycemia, lactic acidosis, hepatomegaly, growth retardation, and/or muscle fatigue/cramping. Cardiomegaly can occur with Pompe disease, but corneal clouding is not a feature. ( Choice E) Niemann-Pick disease results from a deficiency of sphingomyelinase, which leads to the accumulation of sphingomyelin within phagocytes. This disease is characterized by hepatosplenomegaly and progressive neurologic deterioration, but eye findings include a cherry-red spot on the macula, not corneal clouding. Educational objective: Hurler syndrome is a mucopolysaccharidosis caused by a deficiency of alpha-L-iduronidase, which hydrolyzes dermatan and heparan sulfate. Accumulation of these substances results in the characteristic features of intellectual disability, coarse facial features, corneal clouding, and hepatosplenomegaly. Early death due to cardiac complications (eg, myocardial infarction) is expected. References • Early disease progression of Hurler syndrome. Block Time Remaining: 00:02:05 TUTOR https://t.me/USMLEWorldStep1 i Suspend O End Block — Item1 of1 QuestionW :21503 P'Mark <l Previous > Next r n L J Full Screen © Tutorial i Lab Values =* Notes Calculator Reverse Color CEA ) Text Zoom §! i Settings A (ChoiceC ) Glycogenstoragediseasescause defectivemetabolismof glycogenin the liverand/or , growthretardation, , lacticacidosis, hepatomegaly muscles. The presentationcan includehypoglycemia and/or musclefatigue/cramping. Cardiomegalycan occurwith Pompe disease, but cornealcloudingis not a feature. (Choice E ) Niemann-Pick disease resultsfrom a deficiencyof sphingomyelinase , whichleads to the accumulationof sphingomyelinwithinphagocytes. This disease is characterizedby hepatosplenomegaly and progressiveneurologicdeterioration , but eye findingsincludea cherry-red spot on the macula, not cornealclouding. Educational objective : Hurler syndromeis a mucopolysaccharidosis caused by a deficiencyof alpha-L-iduronidase, which hydrolyzesdermatanand heparan sulfate. Accumulationof these substancesresultsin the characteristic , coarse facialfeatures, cornealclouding , and hepatosplenomegaly . Early featuresof intellectualdisability death due to cardiaccomplications(eg, myocardialinfarction) is expected. References • Early diseaseprogressionof Hurler syndrome. Block Time Remaining:00:02:05 TUTOR https://t.me/USMLEWorldStep1 i Suspend O EndBlock — Item 1 of 1 Question W: 21503 P' Mark <l Previous > Next rn L J Full Screen © Tutorial i Lab Values =* Notes Calculator Reverse Color CEA) Text Zoom i§! Settings A ( Choice C ) Glycogen storage diseases cause defective metabolism of glycogen in the liver and/or muscles. The presentation can include hypoglycemia, lactic acidosis, hepatomegaly, growth retardation, and/or muscle fatigue/cramping. Cardiomegaly can occur with Pompe disease, but corneal clouding is not a feature. ( Choice E) Niemann-Pick disease results from a deficiency of sphingomyelinase, which leads to the accumulation of sphingomyelin within phagocytes. This disease is characterized by hepatosplenomegaly and progressive neurologic deterioration, but eye findings include a cherry-red spot on the macula, not corneal clouding. Educational objective: Hurler syndrome is a mucopolysaccharidosis caused by a deficiency of alpha-L-iduronidase, which hydrolyzes dermatan and heparan sulfate. Accumulation of these substances results in the characteristic features of intellectual disability, coarse facial features, corneal clouding, and hepatosplenomegaly. Early death due to cardiac complications (eg, myocardial infarction) is expected. References • Early disease progression of Hurler syndrome. Block Time Remaining: 00:02:05 TUTOR https://t.me/USMLEWorldStep1 i Suspend O End Block — Item 1 of 1 Question W: 21503 P ' Mark <l Previous > Next r n L J Full Screen © Tutorial i LabValues =* Notes Calculator ReverseColor CEA ) TextZoom i§! Settings A ( Choice C ) Glycogenstorage diseases ofglycogen intheliver causedefective metabolism and/or hypoglycemia ,growthretardation , . The presentation ,lactic muscles acidosis can include ,hepatomegaly /cramping canoccurwithPompe disease and/ormusclefatigue isnot ,butcorneal clouding . Cardiomegaly a feature . ( Choice E) Niemann-Pickdiseaseresults ,whichleadstothe froma deficiency ofsphingomyelinase accumulation ofsphingomyelin phagocytes by hepatosplenomegaly within . Thisdiseaseischaracterized neurologic a cherry and progressive deterioration include ,buteye findings -redspoton themacula,not clouding corneal . Educational objective : ,which syndromeisa mucopolysaccharidosis Hurler ofalpha causedby a deficiency -L-iduronidase hydrolyzes results ofthesesubstances dermatanand heparansulfate inthecharacteristic . Accumulation ofintellectual features ,coarsefacial disability clouding ,corneal ,and hepatosplenomegaly . Early features (eg,myocardial )isexpected complications deathdue tocardiac infarction . References ofHurler syndrome. • Earlydiseaseprogression Block Time Remaining : 00:02: 05 TUTOR https ://t.me /USMLEWorldStep1 i O Suspend End Block — Item 1 of 1 Question W: 21503 P ' Mark <l Previous > Next r n L J Full Screen © Tutorial i Lab Values =* Notes Calculator Reverse Color CEA) Text Zoom i§! Settings A ( Choice C ) Glycogen storage diseases cause defective metabolism of glycogen in the liver and/or muscles. The presentation can include hypoglycemia, lactic acidosis, hepatomegaly, growth retardation, and/or muscle fatigue/cramping. Cardiomegaly can occur with Pompe disease, but corneal clouding is not a feature. ( Choice E) Niemann-Pick disease results from a deficiency of sphingomyelinase, which leads to the accumulation of sphingomyelin within phagocytes. This disease is characterized by hepatosplenomegaly and progressive neurologic deterioration, but eye findings include a cherry-red spot on the macula, not corneal clouding. Educational objective: Hurler syndrome is a mucopolysaccharidosis caused by a deficiency of alpha-L-iduronidase, which hydrolyzes dermatan and heparan sulfate. Accumulation of these substances results in the characteristic features of intellectual disability, coarse facial features, corneal clouding, and hepatosplenomegaly. Early death due to cardiac complications (eg, myocardial infarction) is expected. References • Early disease progression of Hurler syndrome. Block Time Remaining: 00:02:05 TUTOR https://t.me/USMLEWorldStep1 i Suspend O End Block — Item 1 of 1 Question W: 21503 P' Mark <l Previous > Next r n L J Full Screen © Tutorial i Lab Values =* Notes Calculator Reverse Color CEA) Text Zoom i§! Settings A ( Choice C ) Glycogen storage diseases cause defective metabolism of glycogen in the liver and/or muscles. The presentation can include hypoglycemia, lactic acidosis, hepatomegaly, growth retardation, and/or muscle fatigue/cramping. Cardiomegaly can occur with Pompe disease, but corneal clouding is not a feature. ( Choice E) Niemann-Pick disease results from a deficiency of sphingomyelinase, which leads to the accumulation of sphingomyelin within phagocytes. This disease is characterized by hepatosplenomegaly and progressive neurologic deterioration, but eye findings include a cherry-red spot on the macula, not corneal clouding. Educational objective : Hurler syndrome is a mucopolysaccharidosis caused by a deficiency of alpha-L-iduronidase, which hydrolyzes dermatan and heparan sulfate. Accumulation of these substances results in the characteristic features of intellectual disability, coarse facial features, corneal clouding, and hepatosplenomegaly. Early death due to cardiac complications (eg, myocardial infarction) is expected. References • Early disease progression of Hurler syndrome. Block Time Remaining : 00 :02 :05 TUTOR https://t.me/USMLEWorldStep1 i Suspend O End Block — Item 1 of 1 Question W: 21503 P' Mark <l Previous > Next r n L J Full Screen © Tutorial i Lab Values =* Notes Calculator Reverse Color CEA ) Text Zoom i§! Settings A ( Choice C ) Glycogenstoragediseasescause defectivemetabolismof glycogenin the liverand/or , growthretardation, , lacticacidosis, hepatomegaly muscles. The presentationcan includehypoglycemia and/or musclefatigue/cramping. Cardiomegalycan occurwith Pompe disease, but cornealcloudingis not a feature. ( Choice E) Niemann-Pick disease resultsfrom a deficiencyof sphingomyelinase , whichleads to the accumulationof sphingomyelinwithinphagocytes. This disease is characterizedby hepatosplenomegaly and progressiveneurologicdeterioration , but eye findingsincludea cherry-red spot on the macula, not cornealclouding. Educational objective : Hurler syndromeis a mucopolysaccharidosis caused by a deficiencyof alpha-L-iduronidase, which hydrolyzesdermatanand heparan sulfate. Accumulationof these substancesresultsin the characteristic , coarse facialfeatures, cornealclouding , and hepatosplenomegaly . Early featuresof intellectualdisability death due to cardiaccomplications(eg, myocardialinfarction) is expected. References • Early diseaseprogressionof Hurler syndrome. Block Time Remaining : 00:02: 05 TUTOR https://t.me/USMLEWorldStep1 i Suspend O EndBlock — Item 1 of 1 Question W: 21503 P' Mark <l > Previous Next r n L J Full Screen © Tutorial i LabValues =* Notes Calculator ReverseColor CEA) TextZoom i§! Settings A ( Choice C ) Glycogenstorage diseases ofglycogen intheliver causedefective metabolism and/or hypoglycemia ,growthretardation , . The presentation ,lactic muscles acidosis can include ,hepatomegaly /cramping canoccurwithPompe disease and/ormusclefatigue isnot ,butcorneal clouding . Cardiomegaly a feature . ( Choice E) Niemann-Pickdiseaseresults ,whichleadstothe froma deficiency ofsphingomyelinase accumulation ofsphingomyelin phagocytes by hepatosplenomegaly within . Thisdiseaseischaracterized neurologic a cherry and progressive deterioration include ,buteye findings -redspoton themacula,not clouding corneal . Educational objective: ,which syndromeisa mucopolysaccharidosis Hurler ofalpha causedby a deficiency -L-iduronidase hydrolyzes results ofthesesubstances dermatanand heparansulfate inthecharacteristic . Accumulation ofintellectual features ,coarsefacial disability clouding ,corneal ,and hepatosplenomegaly . Early features (eg,myocardial )isexpected complications deathdue tocardiac infarction . References ofHurler syndrome. • Earlydiseaseprogression Block Time Remaining: 00:02:05 TUTOR https ://t.me /USMLEWorldStep1 i O Suspend End Block — Item 1 of 1 Question W: 21503 P' Mark <l Previous > Next r n L J Full Screen © Tutorial i Lab Values =* Notes Calculator Reverse Color CEA) Text Zoom i§! Settings A ( Choice C ) Glycogen storage diseases cause defective metabolism of glycogen in the liver and/or muscles. The presentation can include hypoglycemia, lactic acidosis, hepatomegaly, growth retardation, and/or muscle fatigue/cramping. Cardiomegaly can occur with Pompe disease, but corneal clouding is not a feature. ( Choice E) Niemann-Pick disease results from a deficiency of sphingomyelinase, which leads to the accumulation of sphingomyelin within phagocytes. This disease is characterized by hepatosplenomegaly and progressive neurologic deterioration, but eye findings include a cherry-red spot on the macula, not corneal clouding. Educational objective: Hurler syndrome is a mucopolysaccharidosis caused by a deficiency of alpha-L-iduronidase, which hydrolyzes dermatan and heparan sulfate. Accumulation of these substances results in the characteristic features of intellectual disability, coarse facial features, corneal clouding, and hepatosplenomegaly. Early death due to cardiac complications (eg, myocardial infarction) is expected. References • Early disease progression of Hurler syndrome. Block Time Remaining: 00:02:05 TUTOR https://t.me/USMLEWorldStep1 i Suspend O End Block — Item 1 of 1 Question W: 21503 P' Mark <l Previous > Next r n L J Full Screen © Tutorial i Lab Values =* Notes Calculator Reverse Color CEA) Text Zoom i§! Settings A ( Choice C ) Glycogen storage diseases cause defective metabolism of glycogen in the liver and/or muscles. The presentation can include hypoglycemia, lactic acidosis, hepatomegaly, growth retardation, and/or muscle fatigue/cramping. Cardiomegaly can occur with Pompe disease, but corneal clouding is not a feature. ( Choice E) Niemann-Pick disease results from a deficiency of sphingomyelinase, which leads to the accumulation of sphingomyelin within phagocytes. This disease is characterized by hepatosplenomegaly and progressive neurologic deterioration, but eye findings include a cherry-red spot on the macula, not corneal clouding. Educational objective: Hurler syndrome is a mucopolysaccharidosis caused by a deficiency of alpha-L-iduronidase, which hydrolyzes dermatan and heparan sulfate. Accumulation of these substances results in the characteristic features of intellectual disability, coarse facial features, corneal clouding, and hepatosplenomegaly. Early death due to cardiac complications (eg, myocardial infarction) is expected. References • Early disease progression of Hurler syndrome. Block Time Remaining: 00:02:05 TUTOR https://t.me/USMLEWorldStep1 i Suspend O End Block — Item 1 of 1 Question W: 21503 P' Mark <l Previous > Next r n L J Full Screen © Tutorial i Lab Values =* Notes Calculator Reverse Color CEA) Text Zoom i§! Settings A ( Choice C ) Glycogen storage diseases cause defective metabolism of glycogen in the liver and/or muscles. The presentation can include hypoglycemia, lactic acidosis, hepatomegaly, growth retardation, and/or muscle fatigue/cramping. Cardiomegaly can occur with Pompe disease, but corneal clouding is not a feature. ( Choice E) Niemann-Pick disease results from a deficiency of sphingomyelinase, which leads to the accumulation of sphingomyelin within phagocytes. This disease is characterized by hepatosplenomegaly and progressive neurologic deterioration, but eye findings include a cherry-red spot on the macula, not corneal clouding. Educational objective : Hurler syndrome is a mucopolysaccharidosis caused by a deficiency of alpha-L-iduronidase, which hydrolyzes dermatan and heparan sulfate. Accumulation of these substances results in the characteristic features of intellectual disability, coarse facial features, corneal clouding, and hepatosplenomegaly. Early death due to cardiac complications (eg, myocardial infarction) is expected. References • Early disease progression of Hurler syndrome. Block Time Remaining : 00 :02 :05 TUTOR https://t.me/USMLEWorldStep1 i Suspend O End Block — Item 1 of 1 Question W: 21503 P' Mark <l Previous > Next r n L J Full Screen © Tutorial i Lab Values =* Notes Calculator Reverse Color CEA) Text Zoom i§! Settings A ( Choice C ) Glycogen storage diseases cause defective metabolism of glycogen in the liver and/or muscles. The presentation can include hypoglycemia, lactic acidosis, hepatomegaly, growth retardation, and/or muscle fatigue/cramping. Cardiomegaly can occur with Pompe disease, but corneal clouding is not a feature. ( Choice E) Niemann-Pick disease results from a deficiency of sphingomyelinase, which leads to the accumulation of sphingomyelin within phagocytes. This disease is characterized by hepatosplenomegaly and progressive neurologic deterioration, but eye findings include a cherry-red spot on the macula, not corneal clouding. Educational objective: Hurler syndrome is a mucopolysaccharidosis caused by a deficiency of alpha-L-iduronidase, which hydrolyzes dermatan and heparan sulfate. Accumulation of these substances results in the characteristic features of intellectual disability, coarse facial features, corneal clouding, and hepatosplenomegaly. Early death due to cardiac complications (eg, myocardial infarction) is expected. References • Early disease progression of Hurler syndrome. Block Time Remaining: 00:02:05 TUTOR https://t.me/USMLEWorldStep1 i Suspend O End Block — Item 1 of 1 Question W: 21503 P' Mark <l Previous > Next r n L J Full Screen © Tutorial i Lab Values =* Notes Calculator Reverse Color CEA ) Text Zoom i§! Settings A ( Choice C ) Glycogen storage diseases cause defective metabolism of glycogen in the liver and /or muscles . The presentation can include hypoglycemia , lactic acidosis , hepatomegaly , growth retardation, and /or muscle fatigue /cramping. Cardiomegaly can occur with Pompe disease , but corneal clouding is not a feature. ( Choice E) Niemann -Pick disease results from a deficiency of sphingomyelinase , which leads to the accumulation of sphingomyelin within phagocytes . This disease is characterized by hepatosplenomegaly and progressive neurologic deterioration, but eye findings include a cherry-red spot on the macula , not corneal clouding . Educational objective : Hurler syndrome is a mucopolysaccharidosis caused by a deficiency of alpha -L-iduronidase , which hydrolyzes dermatan and heparan sulfate . Accumulation of these substances results in the characteristic features of intellectual disability, coarse facial features , corneal clouding, and hepatosplenomegaly . Early death due to cardiac complications (eg , myocardial infarction) is expected . References • Early disease progression of Hurler syndrome . Block Time Remaining : 00:02: 05 TUTOR https://t.me /USMLEWorldStep1 i Suspend O End Block — Item 1 of 1 Question W: 21503 P' Mark <l Previous > Next r n L J Full Screen © Tutorial i Lab Values =* Notes Calculator Reverse Color CEA) Text Zoom i§! Settings A ( Choice C ) Glycogen storage diseases cause defective metabolism of glycogen in the liver and/or muscles. The presentation can include hypoglycemia, lactic acidosis, hepatomegaly, growth retardation, and/or muscle fatigue/cramping. Cardiomegaly can occur with Pompe disease, but corneal clouding is not a feature. ( Choice E) Niemann-Pick disease results from a deficiency of sphingomyelinase, which leads to the accumulation of sphingomyelin within phagocytes. This disease is characterized by hepatosplenomegaly and progressive neurologic deterioration, but eye findings include a cherry-red spot on the macula, not corneal clouding. Educational objective : Hurler syndrome is a mucopolysaccharidosis caused by a deficiency of alpha-L-iduronidase, which hydrolyzes dermatan and heparan sulfate. Accumulation of these substances results in the characteristic features of intellectual disability, coarse facial features, corneal clouding, and hepatosplenomegaly. Early death due to cardiac complications (eg, myocardial infarction) is expected. References • Early disease progression of Hurler syndrome. Block Time Remaining : 00 :02 :05 TUTOR https://t.me/USMLEWorldStep1 i Suspend O End Block — Item 1 of 1 Question W: 21503 P' Mark <l Previous > Next r n L J Full Screen © Tutorial i Lab Values =* Notes Calculator Reverse Color CEA ) Text Zoom i§! Settings A ( Choice C ) Glycogen storage diseases cause defective metabolism of glycogen in the liver and /or muscles . The presentation can include hypoglycemia , lactic acidosis , hepatomegaly , growth retardation, and /or muscle fatigue /cramping. Cardiomegaly can occur with Pompe disease , but corneal clouding is not a feature. ( Choice E) Niemann -Pick disease results from a deficiency of sphingomyelinase , which leads to the accumulation of sphingomyelin within phagocytes . This disease is characterized by hepatosplenomegaly and progressive neurologic deterioration, but eye findings include a cherry-red spot on the macula , not corneal clouding . Educational objective : Hurler syndrome is a mucopolysaccharidosis caused by a deficiency of alpha -L-iduronidase , which hydrolyzes dermatan and heparan sulfate . Accumulation of these substances results in the characteristic features of intellectual disability, coarse facial features , corneal clouding, and hepatosplenomegaly . Early death due to cardiac complications (eg , myocardial infarction) is expected . References • Early disease progression of Hurler syndrome . Block Time Remaining : 00:02: 05 TUTOR https://t.me /USMLEWorldStep1 i Suspend O End Block — Item 1 of 1 Question W: 21503 P' Mark <l Previous > Next r n L J Full Screen © Tutorial i Lab Values =* Notes Calculator Reverse Color CEA ) Text Zoom i§! Settings A ( Choice C ) Glycogenstoragediseasescause defectivemetabolismof glycogenin the liverand/or , growthretardation, , lacticacidosis, hepatomegaly muscles. The presentationcan includehypoglycemia and/or musclefatigue/cramping. Cardiomegalycan occurwith Pompe disease, but cornealcloudingis not a feature. ( Choice E) Niemann-Pick disease resultsfrom a deficiencyof sphingomyelinase , whichleads to the accumulationof sphingomyelinwithinphagocytes. This disease is characterizedby hepatosplenomegaly and progressiveneurologicdeterioration , but eye findingsincludea cherry-red spot on the macula, not cornealclouding. Educational objective : Hurler syndromeis a mucopolysaccharidosis caused by a deficiencyof alpha-L-iduronidase, which hydrolyzesdermatanand heparan sulfate. Accumulationof these substancesresultsin the characteristic , coarse facialfeatures, cornealclouding , and hepatosplenomegaly . Early featuresof intellectualdisability death due to cardiaccomplications(eg, myocardialinfarction) is expected. References • Early diseaseprogressionof Hurler syndrome. Block Time Remaining : 00:02: 05 TUTOR https://t.me/USMLEWorldStep1 i Suspend O EndBlock — Item 1 of 1 Question W: 21503 P' Mark <l Previous > Next r n L J Full Screen © Tutorial i Lab Values =* Notes Calculator Reverse Color CEA) Text Zoom i§! Settings A ( Choice C ) Glycogen storage diseases cause defective metabolism of glycogen in the liver and/or muscles. The presentation can include hypoglycemia, lactic acidosis, hepatomegaly, growth retardation, and/or muscle fatigue/cramping. Cardiomegaly can occur with Pompe disease, but corneal clouding is not a feature. ( Choice E) Niemann-Pick disease results from a deficiency of sphingomyelinase, which leads to the accumulation of sphingomyelin within phagocytes. This disease is characterized by hepatosplenomegaly and progressive neurologic deterioration, but eye findings include a cherry-red spot on the macula, not corneal clouding. Educational objective : Hurler syndrome is a mucopolysaccharidosis caused by a deficiency of alpha-L-iduronidase, which hydrolyzes dermatan and heparan sulfate. Accumulation of these substances results in the characteristic features of intellectual disability, coarse facial features, corneal clouding, and hepatosplenomegaly. Early death due to cardiac complications (eg, myocardial infarction) is expected. References • Early disease progression of Hurler syndrome. Block Time Remaining : 00 :02 :05 TUTOR https://t.me/USMLEWorldStep1 i Suspend O End Block — Item 1 of 1 Question W: 21503 P' Mark <l Previous > Next r n L J Full Screen © Tutorial i Lab Values =* Notes Calculator Reverse Color CEA ) Text Zoom i§! Settings A ( Choice C ) Glycogenstoragediseasescause defectivemetabolismof glycogenin the liverand/or , growthretardation, , lacticacidosis, hepatomegaly muscles. The presentationcan includehypoglycemia and/or musclefatigue/cramping. Cardiomegalycan occurwith Pompe disease, but cornealcloudingis not a feature. ( Choice E) Niemann-Pick disease resultsfrom a deficiencyof sphingomyelinase , whichleads to the accumulationof sphingomyelinwithinphagocytes. This disease is characterizedby hepatosplenomegaly and progressiveneurologicdeterioration , but eye findingsincludea cherry-red spot on the macula, not cornealclouding. Educational objective : Hurler syndromeis a mucopolysaccharidosis caused by a deficiencyof alpha-L-iduronidase, which hydrolyzesdermatanand heparan sulfate. Accumulationof these substancesresultsin the characteristic , coarse facialfeatures, cornealclouding , and hepatosplenomegaly . Early featuresof intellectualdisability death due to cardiaccomplications(eg, myocardialinfarction) is expected. References • Early diseaseprogressionof Hurler syndrome. Block Time Remaining : 00:02: 05 TUTOR https://t.me/USMLEWorldStep1 i Suspend O EndBlock — Item 1 of 1 Question W: 21503 P' Mark <l Previous > Next r n L J Full Screen © Tutorial i Lab Values =* Notes Calculator Reverse Color CEA ) Text Zoom i§! Settings A ( Choice C ) Glycogenstoragediseasescause defectivemetabolismof glycogenin the liverand/or , growthretardation, , lacticacidosis, hepatomegaly muscles. The presentationcan includehypoglycemia and/or musclefatigue/cramping. Cardiomegalycan occurwith Pompe disease, but cornealcloudingis not a feature. ( Choice E) Niemann-Pick disease resultsfrom a deficiencyof sphingomyelinase , whichleads to the accumulationof sphingomyelinwithinphagocytes. This disease is characterizedby hepatosplenomegaly and progressiveneurologicdeterioration , but eye findingsincludea cherry-red spot on the macula, not cornealclouding. Educational objective : Hurler syndromeis a mucopolysaccharidosis caused by a deficiencyof alpha-L-iduronidase, which hydrolyzesdermatanand heparan sulfate. Accumulationof these substancesresultsin the characteristic , coarse facialfeatures, cornealclouding , and hepatosplenomegaly . Early featuresof intellectualdisability death due to cardiaccomplications(eg, myocardialinfarction) is expected. References • Early diseaseprogressionof Hurler syndrome. Block Time Remaining : 00:02: 05 TUTOR https://t.me/USMLEWorldStep1 i Suspend O EndBlock — Item 1 of 1 Question W: 21503 P' Mark <l Previous > Next r n L J Full Screen © Tutorial i Lab Values =* Notes Calculator Reverse Color CEA ) Text Zoom i§! Settings A ( Choice C ) Glycogen storage diseases cause defective metabolism of glycogen in the liver and /or muscles . The presentation can include hypoglycemia , lactic acidosis , hepatomegaly , growth retardation, and /or muscle fatigue /cramping. Cardiomegaly can occur with Pompe disease , but corneal clouding is not a feature. ( Choice E) Niemann -Pick disease results from a deficiency of sphingomyelinase , which leads to the accumulation of sphingomyelin within phagocytes . This disease is characterized by hepatosplenomegaly and progressive neurologic deterioration, but eye findings include a cherry-red spot on the macula , not corneal clouding . Educational objective : Hurler syndrome is a mucopolysaccharidosis caused by a deficiency of alpha -L-iduronidase , which hydrolyzes dermatan and heparan sulfate . Accumulation of these substances results in the characteristic features of intellectual disability, coarse facial features , corneal clouding, and hepatosplenomegaly . Early death due to cardiac complications (eg , myocardial infarction) is expected . References • Early disease progression of Hurler syndrome . Block Time Remaining : 00:02: 05 TUTOR https://t.me /USMLEWorldStep1 i Suspend O End Block — Item 1 of 1 Question W: 21503 P' Mark <l Previous > Next r n L J Full Screen © Tutorial i Lab Values =* Notes Calculator Reverse Color CEA ) Text Zoom i§! Settings A ( Choice C ) Glycogenstoragediseasescause defectivemetabolismof glycogenin the liverand/or , growthretardation, , lacticacidosis, hepatomegaly muscles. The presentationcan includehypoglycemia and/or musclefatigue/cramping. Cardiomegalycan occurwith Pompe disease, but cornealcloudingis not a feature. ( Choice E) Niemann-Pick disease resultsfrom a deficiencyof sphingomyelinase , whichleads to the accumulationof sphingomyelinwithinphagocytes. This disease is characterizedby hepatosplenomegaly and progressiveneurologicdeterioration , but eye findingsincludea cherry-red spot on the macula, not cornealclouding. Educational objective : Hurler syndromeis a mucopolysaccharidosis caused by a deficiencyof alpha-L-iduronidase, which hydrolyzesdermatanand heparan sulfate. Accumulationof these substancesresultsin the characteristic , coarse facialfeatures, cornealclouding , and hepatosplenomegaly . Early featuresof intellectualdisability death due to cardiaccomplications(eg, myocardialinfarction) is expected. References • Early diseaseprogressionof Hurler syndrome. Block Time Remaining : 00:02: 05 TUTOR https://t.me/USMLEWorldStep1 i Suspend O EndBlock — Item 1 of 1 Question W: 21503 P' Mark <l Previous > Next r n L J Full Screen © Tutorial i Lab Values =* Notes Calculator Reverse Color CEA ) Text Zoom i§! Settings A ( Choice C ) Glycogenstoragediseasescause defectivemetabolismof glycogenin the liverand/or , growthretardation, , lacticacidosis, hepatomegaly muscles. The presentationcan includehypoglycemia and/or musclefatigue/cramping. Cardiomegalycan occurwith Pompe disease, but cornealcloudingis not a feature. ( Choice E) Niemann-Pick disease resultsfrom a deficiencyof sphingomyelinase , whichleads to the accumulationof sphingomyelinwithinphagocytes. This disease is characterizedby hepatosplenomegaly and progressiveneurologicdeterioration , but eye findingsincludea cherry-red spot on the macula, not cornealclouding. Educational objective : Hurler syndromeis a mucopolysaccharidosis caused by a deficiencyof alpha-L-iduronidase, which hydrolyzesdermatanand heparan sulfate. Accumulationof these substancesresultsin the characteristic , coarse facialfeatures, cornealclouding , and hepatosplenomegaly . Early featuresof intellectualdisability death due to cardiaccomplications(eg, myocardialinfarction) is expected. References • Early diseaseprogressionof Hurler syndrome. Block Time Remaining : 00:02: 05 TUTOR https://t.me/USMLEWorldStep1 i Suspend O EndBlock — Item 1 of 1 Question W: 21503 P' Mark <l Previous > Next r n L J Full Screen © Tutorial i Lab Values =* Notes Calculator Reverse Color CEA) Text Zoom i§! Settings A ( Choice C ) Glycogen storage diseases cause defective metabolism of glycogen in the liver and/or muscles. The presentation can include hypoglycemia, lactic acidosis, hepatomegaly, growth retardation, and/or muscle fatigue/cramping. Cardiomegaly can occur with Pompe disease, but corneal clouding is not a feature. ( Choice E) Niemann-Pick disease results from a deficiency of sphingomyelinase, which leads to the accumulation of sphingomyelin within phagocytes. This disease is characterized by hepatosplenomegaly and progressive neurologic deterioration, but eye findings include a cherry-red spot on the macula, not corneal clouding. Educational objective : Hurler syndrome is a mucopolysaccharidosis caused by a deficiency of alpha-L-iduronidase, which hydrolyzes dermatan and heparan sulfate. Accumulation of these substances results in the characteristic features of intellectual disability, coarse facial features, corneal clouding, and hepatosplenomegaly. Early death due to cardiac complications (eg, myocardial infarction) is expected. References • Early disease progression of Hurler syndrome. Block Time Remaining : 00 :02 :05 TUTOR https://t.me/USMLEWorldStep1 i Suspend O End Block — Item 1 of 1 Question W: 21503 P' Mark <l Previous > Next r n L J Full Screen © Tutorial i Lab Values =* Notes Calculator Reverse Color CEA) Text Zoom i§! Settings A ( Choice C ) Glycogen storage diseases cause defective metabolism of glycogen in the liver and/or muscles. The presentation can include hypoglycemia, lactic acidosis, hepatomegaly, growth retardation, and/or muscle fatigue/cramping. Cardiomegaly can occur with Pompe disease, but corneal clouding is not a feature. ( Choice E) Niemann-Pick disease results from a deficiency of sphingomyelinase, which leads to the accumulation of sphingomyelin within phagocytes. This disease is characterized by hepatosplenomegaly and progressive neurologic deterioration, but eye findings include a cherry-red spot on the macula, not corneal clouding. Educational objective: Hurler syndrome is a mucopolysaccharidosis caused by a deficiency of alpha-L-iduronidase, which hydrolyzes dermatan and heparan sulfate. Accumulation of these substances results in the characteristic features of intellectual disability, coarse facial features, corneal clouding, and hepatosplenomegaly. Early death due to cardiac complications (eg, myocardial infarction) is expected. References • Early disease progression of Hurler syndrome. Block Time Remaining: 00:02:05 TUTOR https://t.me/USMLEWorldStep1 i Suspend O End Block — Item 1 of 1 Question W: 21503 P' Mark <l Previous > Next r n L J Full Screen © Tutorial i Lab Values =* Notes Calculator Reverse Color CEA) Text Zoom i§! Settings A ( Choice C ) Glycogen storage diseases cause defective metabolism of glycogen in the liver and/or muscles. The presentation can include hypoglycemia, lactic acidosis, hepatomegaly, growth retardation, and/or muscle fatigue/cramping. Cardiomegaly can occur with Pompe disease, but corneal clouding is not a feature. ( Choice E) Niemann-Pick disease results from a deficiency of sphingomyelinase, which leads to the accumulation of sphingomyelin within phagocytes. This disease is characterized by hepatosplenomegaly and progressive neurologic deterioration, but eye findings include a cherry-red spot on the macula, not corneal clouding. Educational objective: Hurler syndrome is a mucopolysaccharidosis caused by a deficiency of alpha-L-iduronidase, which hydrolyzes dermatan and heparan sulfate. Accumulation of these substances results in the characteristic features of intellectual disability, coarse facial features, corneal clouding, and hepatosplenomegaly. Early death due to cardiac complications (eg, myocardial infarction) is expected. References • Early disease progression of Hurler syndrome. Block Time Remaining: 00:02:05 TUTOR https://t.me/USMLEWorldStep1 i Suspend O End Block — Item 1 of 1 Question W: 21503 P' Mark <l Previous > Next r n L J Full Screen © Tutorial i Lab Values =* Notes Calculator Reverse Color CEA ) Text Zoom i§! Settings A ( Choice C ) Glycogen storage diseases cause defective metabolism of glycogen in the liver and /or muscles . The presentation can include hypoglycemia , lactic acidosis , hepatomegaly , growth retardation, and /or muscle fatigue /cramping. Cardiomegaly can occur with Pompe disease , but corneal clouding is not a feature. ( Choice E) Niemann -Pick disease results from a deficiency of sphingomyelinase , which leads to the accumulation of sphingomyelin within phagocytes . This disease is characterized by hepatosplenomegaly and progressive neurologic deterioration, but eye findings include a cherry-red spot on the macula , not corneal clouding . Educational objective : Hurler syndrome is a mucopolysaccharidosis caused by a deficiency of alpha -L-iduronidase , which hydrolyzes dermatan and heparan sulfate . Accumulation of these substances results in the characteristic features of intellectual disability, coarse facial features , corneal clouding, and hepatosplenomegaly . Early death due to cardiac complications (eg , myocardial infarction) is expected . References • Early disease progression of Hurler syndrome . Block Time Remaining : 00:02: 05 TUTOR https://t.me /USMLEWorldStep1 i Suspend O End Block — Item 1 of 1 Question W: 21503 P' Mark <l Previous > Next rn L J Full Screen © Tutorial i Lab Values =* Notes Calculator Reverse Color CEA ) Text Zoom i§! Settings A ( Choice C ) Glycogenstoragediseasescause defectivemetabolismof glycogenin the liverand/or , growthretardation, , lacticacidosis, hepatomegaly muscles. The presentationcan includehypoglycemia and/or musclefatigue/cramping. Cardiomegalycan occurwith Pompe disease, but cornealcloudingis not a feature. ( Choice E) Niemann-Pick disease resultsfrom a deficiencyof sphingomyelinase , whichleads to the accumulationof sphingomyelinwithinphagocytes. This disease is characterizedby hepatosplenomegaly and progressiveneurologicdeterioration , but eye findingsincludea cherry-red spot on the macula, not cornealclouding. Educational objective : Hurler syndromeis a mucopolysaccharidosis caused by a deficiencyof alpha-L-iduronidase, which hydrolyzesdermatanand heparan sulfate. Accumulationof these substancesresultsin the characteristic , coarse facialfeatures, cornealclouding , and hepatosplenomegaly . Early featuresof intellectualdisability death due to cardiaccomplications(eg, myocardialinfarction) is expected. References • Early diseaseprogressionof Hurler syndrome. Block Time Remaining : 00:02: 05 TUTOR https://t.me/USMLEWorldStep1 i Suspend O EndBlock — Item 1 of 1 Question W: 21503 P' Mark <l Previous > Next r n L J Full Screen © Tutorial i Lab Values =* Notes Calculator Reverse Color CEA) Text Zoom i§! Settings A ( Choice C ) Glycogen storage diseases cause defective metabolism of glycogen in the liver and/or muscles. The presentation can include hypoglycemia, lactic acidosis, hepatomegaly, growth retardation, and/or muscle fatigue/cramping. Cardiomegaly can occur with Pompe disease, but corneal clouding is not a feature. ( Choice E) Niemann-Pick disease results from a deficiency of sphingomyelinase, which leads to the accumulation of sphingomyelin within phagocytes. This disease is characterized by hepatosplenomegaly and progressive neurologic deterioration, but eye findings include a cherry-red spot on the macula, not corneal clouding. Educational objective : Hurler syndrome is a mucopolysaccharidosis caused by a deficiency of alpha-L-iduronidase, which hydrolyzes dermatan and heparan sulfate. Accumulation of these substances results in the characteristic features of intellectual disability, coarse facial features, corneal clouding, and hepatosplenomegaly. Early death due to cardiac complications (eg, myocardial infarction) is expected. References • Early disease progression of Hurler syndrome. Block Time Remaining : 00 :02 :05 TUTOR https://t.me/USMLEWorldStep1 i Suspend O End Block — Item 1 of 1 Question W: 21503 P' Mark <l Previous > Next rn L J Full Screen © Tutorial i Lab Values =* Notes Calculator Reverse Color CEA) Text Zoom i§! Settings A ( Choice C ) Glycogen storage diseases cause defective metabolism of glycogen in the liver and /or muscles . The presentation can include hypoglycemia , lactic acidosis , hepatomegaly , growth retardation, and /or muscle fatigue /cramping. Cardiomegaly can occur with Pompe disease , but corneal clouding is not a feature. ( Choice E) Niemann -Pick disease results from a deficiency of sphingomyelinase , which leads to the accumulation of sphingomyelin within phagocytes . This disease is characterized by hepatosplenomegaly and progressive neurologic deterioration, but eye findings include a cherry-red spot on the macula , not corneal clouding . Educational objective: Hurler syndrome is a mucopolysaccharidosis caused by a deficiency of alpha -L-iduronidase , which hydrolyzes dermatan and heparan sulfate . Accumulation of these substances results in the characteristic features of intellectual disability, coarse facial features , corneal clouding, and hepatosplenomegaly . Early death due to cardiac complications (eg , myocardial infarction) is expected . References • Early disease progression of Hurler syndrome . Block Time Remaining: 00:02:05 TUTOR https://t.me /USMLEWorldStep1 i Suspend O End Block — Item 1 of 1 Question W: 21503 P' Mark <l Previous > Next rn L J Full Screen © Tutorial i Lab Values =* Notes Calculator Reverse Color CEA) Text Zoom i§! Settings A ( Choice C ) Glycogen storage diseases cause defective metabolism of glycogen in the liver and /or muscles . The presentation can include hypoglycemia , lactic acidosis , hepatomegaly , growth retardation, and /or muscle fatigue /cramping. Cardiomegaly can occur with Pompe disease , but corneal clouding is not a feature. ( Choice E) Niemann -Pick disease results from a deficiency of sphingomyelinase , which leads to the accumulation of sphingomyelin within phagocytes . This disease is characterized by hepatosplenomegaly and progressive neurologic deterioration, but eye findings include a cherry-red spot on the macula , not corneal clouding . Educational objective: Hurler syndrome is a mucopolysaccharidosis caused by a deficiency of alpha -L-iduronidase , which hydrolyzes dermatan and heparan sulfate . Accumulation of these substances results in the characteristic features of intellectual disability, coarse facial features , corneal clouding, and hepatosplenomegaly . Early death due to cardiac complications (eg , myocardial infarction) is expected . References • Early disease progression of Hurler syndrome . Block Time Remaining: 00:02:05 TUTOR https://t.me /USMLEWorldStep1 i Suspend O End Block — Item 1 of 1 Question W: 21503 P' Mark <l Previous > Next rn L J Full Screen © Tutorial i Lab Values =* Notes Calculator Reverse Color CEA) Text Zoom i§! Settings A ( Choice C ) Glycogen storage diseases cause defective metabolism of glycogen in the liver and/or muscles. The presentation can include hypoglycemia, lactic acidosis, hepatomegaly, growth retardation, and/or muscle fatigue/cramping. Cardiomegaly can occur with Pompe disease, but corneal clouding is not a feature. ( Choice E) Niemann-Pick disease results from a deficiency of sphingomyelinase, which leads to the accumulation of sphingomyelin within phagocytes. This disease is characterized by hepatosplenomegaly and progressive neurologic deterioration, but eye findings include a cherry-red spot on the macula, not corneal clouding. Educational objective: Hurler syndrome is a mucopolysaccharidosis caused by a deficiency of alpha-L-iduronidase, which hydrolyzes dermatan and heparan sulfate. Accumulation of these substances results in the characteristic features of intellectual disability, coarse facial features, corneal clouding, and hepatosplenomegaly. Early death due to cardiac complications (eg, myocardial infarction) is expected. References • Early disease progression of Hurler syndrome. Block Time Remaining: 00:02:05 TUTOR https://t.me/USMLEWorldStep1 i Suspend O End Block — Item1 of1 QuestionW :21503 P'Mark <l Previous > Next r n L J Full Screen © Tutorial i Lab Values =* Notes Calculator Reverse Color CEA ) Text Zoom §! i Settings A (ChoiceC ) Glycogenstoragediseasescause defectivemetabolismof glycogenin the liverand/or , growthretardation, , lacticacidosis, hepatomegaly muscles. The presentationcan includehypoglycemia and/or musclefatigue/cramping. Cardiomegalycan occurwith Pompe disease, but cornealcloudingis not a feature. (Choice E ) Niemann-Pick disease resultsfrom a deficiencyof sphingomyelinase , whichleads to the accumulationof sphingomyelinwithinphagocytes. This disease is characterizedby hepatosplenomegaly and progressiveneurologicdeterioration , but eye findingsincludea cherry-red spot on the macula, not cornealclouding. Educational objective : Hurler syndromeis a mucopolysaccharidosis caused by a deficiencyof alpha-L-iduronidase, which hydrolyzesdermatanand heparan sulfate. Accumulationof these substancesresultsin the characteristic , coarse facialfeatures, cornealclouding , and hepatosplenomegaly . Early featuresof intellectualdisability death due to cardiaccomplications(eg, myocardialinfarction) is expected. References • Early diseaseprogressionof Hurler syndrome. Block Time Remaining:00:02:05 TUTOR https://t.me/USMLEWorldStep1 i Suspend O EndBlock — Item 1 of 1 Question W: 21503 P' Mark <l Previous > Next rn L J Full Screen © Tutorial i Lab Values =* Notes Calculator Reverse Color CEA ) Text Zoom i§! Settings A ( Choice C ) Glycogenstoragediseasescause defectivemetabolismof glycogenin the liverand/or , growthretardation, , lacticacidosis, hepatomegaly muscles. The presentationcan includehypoglycemia and/or musclefatigue/cramping. Cardiomegalycan occurwith Pompe disease, but cornealcloudingis not a feature. ( Choice E) Niemann-Pick disease resultsfrom a deficiencyof sphingomyelinase , whichleads to the accumulationof sphingomyelinwithinphagocytes. This disease is characterizedby hepatosplenomegaly and progressiveneurologicdeterioration , but eye findingsincludea cherry-red spot on the macula, not cornealclouding. Educational objective : Hurler syndromeis a mucopolysaccharidosis caused by a deficiencyof alpha-L-iduronidase, which hydrolyzesdermatanand heparan sulfate. Accumulationof these substancesresultsin the characteristic , coarse facialfeatures, cornealclouding , and hepatosplenomegaly . Early featuresof intellectualdisability death due to cardiaccomplications(eg, myocardialinfarction) is expected. References • Early diseaseprogressionof Hurler syndrome. Block Time Remaining : 00:02: 05 TUTOR https://t.me/USMLEWorldStep1 i Suspend O EndBlock — Item 1 of 1 Question W: 21503 P' Mark <l Previous > Next rn L J Full Screen © Tutorial i Lab Values =* Notes Calculator Reverse Color CEA) Text Zoom i§! Settings A ( Choice C ) Glycogen storage diseases cause defective metabolism of glycogen in the liver and/or muscles. The presentation can include hypoglycemia, lactic acidosis, hepatomegaly, growth retardation, and/or muscle fatigue/cramping. Cardiomegaly can occur with Pompe disease, but corneal clouding is not a feature. ( Choice E) Niemann-Pick disease results from a deficiency of sphingomyelinase, which leads to the accumulation of sphingomyelin within phagocytes. This disease is characterized by hepatosplenomegaly and progressive neurologic deterioration, but eye findings include a cherry-red spot on the macula, not corneal clouding. Educational objective: Hurler syndrome is a mucopolysaccharidosis caused by a deficiency of alpha-L-iduronidase, which hydrolyzes dermatan and heparan sulfate. Accumulation of these substances results in the characteristic features of intellectual disability, coarse facial features, corneal clouding, and hepatosplenomegaly. Early death due to cardiac complications (eg, myocardial infarction) is expected. References • Early disease progression of Hurler syndrome. Block Time Remaining: 00:02:05 TUTOR https://t.me/USMLEWorldStep1 i Suspend O End Block — Item 1 of 1 Question W: 21503 P' Mark <l Previous > Next rn L J Full Screen © Tutorial i Lab Values =* Notes Calculator Reverse Color CEA) Text Zoom i§! Settings A ( Choice C ) Glycogen storage diseases cause defective metabolism of glycogen in the liver and/or muscles. The presentation can include hypoglycemia, lactic acidosis, hepatomegaly, growth retardation, and/or muscle fatigue/cramping. Cardiomegaly can occur with Pompe disease, but corneal clouding is not a feature. ( Choice E) Niemann-Pick disease results from a deficiency of sphingomyelinase, which leads to the accumulation of sphingomyelin within phagocytes. This disease is characterized by hepatosplenomegaly and progressive neurologic deterioration, but eye findings include a cherry-red spot on the macula, not corneal clouding. Educational objective: Hurler syndrome is a mucopolysaccharidosis caused by a deficiency of alpha-L-iduronidase, which hydrolyzes dermatan and heparan sulfate. Accumulation of these substances results in the characteristic features of intellectual disability, coarse facial features, corneal clouding, and hepatosplenomegaly. Early death due to cardiac complications (eg, myocardial infarction) is expected. References • Early disease progression of Hurler syndrome. Block Time Remaining: 00:02:05 TUTOR https://t.me/USMLEWorldStep1 i Suspend O End Block — Item 1 of 1 Question W: 21503 P' Mark <l Previous > Next rn L J Full Screen © Tutorial i Lab Values =* Notes Calculator Reverse Color CEA) Text Zoom i§! Settings A ( Choice C ) Glycogen storage diseases cause defective metabolism of glycogen in the liver and/or muscles. The presentation can include hypoglycemia, lactic acidosis, hepatomegaly, growth retardation, and/or muscle fatigue/cramping. Cardiomegaly can occur with Pompe disease, but corneal clouding is not a feature. ( Choice E) Niemann-Pick disease results from a deficiency of sphingomyelinase, which leads to the accumulation of sphingomyelin within phagocytes. This disease is characterized by hepatosplenomegaly and progressive neurologic deterioration, but eye findings include a cherry-red spot on the macula, not corneal clouding. Educational objective: Hurler syndrome is a mucopolysaccharidosis caused by a deficiency of alpha-L-iduronidase, which hydrolyzes dermatan and heparan sulfate. Accumulation of these substances results in the characteristic features of intellectual disability, coarse facial features, corneal clouding, and hepatosplenomegaly. Early death due to cardiac complications (eg, myocardial infarction) is expected. References • Early disease progression of Hurler syndrome. Block Time Remaining: 00:02:05 TUTOR https://t.me/USMLEWorldStep1 i Suspend O End Block — Item 1 of 1 Question W: 21503 P' Mark <l Previous > Next rn L J Full Screen © Tutorial i Lab Values =* Notes Calculator Reverse Color CEA) Text Zoom i§! Settings A ( Choice C ) Glycogen storage diseases cause defective metabolism of glycogen in the liver and/or muscles. The presentation can include hypoglycemia, lactic acidosis, hepatomegaly, growth retardation, and/or muscle fatigue/cramping. Cardiomegaly can occur with Pompe disease, but corneal clouding is not a feature. ( Choice E) Niemann-Pick disease results from a deficiency of sphingomyelinase, which leads to the accumulation of sphingomyelin within phagocytes. This disease is characterized by hepatosplenomegaly and progressive neurologic deterioration, but eye findings include a cherry-red spot on the macula, not corneal clouding. Educational objective: Hurler syndrome is a mucopolysaccharidosis caused by a deficiency of alpha-L-iduronidase, which hydrolyzes dermatan and heparan sulfate. Accumulation of these substances results in the characteristic features of intellectual disability, coarse facial features, corneal clouding, and hepatosplenomegaly. Early death due to cardiac complications (eg, myocardial infarction) is expected. References • Early disease progression of Hurler syndrome. Block Time Remaining: 00:02:05 TUTOR https://t.me/USMLEWorldStep1 i Suspend O End Block — Item 1 of 1 Question W: 21503 P' Mark <l Previous > Next rn L J Full Screen © Tutorial i Lab Values =* Notes Calculator Reverse Color CEA) Text Zoom i§! Settings A ( Choice C ) Glycogen storage diseases cause defective metabolism of glycogen in the liver and/or muscles. The presentation can include hypoglycemia, lactic acidosis, hepatomegaly, growth retardation, and/or muscle fatigue/cramping. Cardiomegaly can occur with Pompe disease, but corneal clouding is not a feature. ( Choice E) Niemann-Pick disease results from a deficiency of sphingomyelinase, which leads to the accumulation of sphingomyelin within phagocytes. This disease is characterized by hepatosplenomegaly and progressive neurologic deterioration, but eye findings include a cherry-red spot on the macula, not corneal clouding. Educational objective: Hurler syndrome is a mucopolysaccharidosis caused by a deficiency of alpha-L-iduronidase, which hydrolyzes dermatan and heparan sulfate. Accumulation of these substances results in the characteristic features of intellectual disability, coarse facial features, corneal clouding, and hepatosplenomegaly. Early death due to cardiac complications (eg, myocardial infarction) is expected. References • Early disease progression of Hurler syndrome. Block Time Remaining: 00:02:05 TUTOR https://t.me/USMLEWorldStep1 i Suspend O End Block — Item1 of1 QuestionW :21503 P'Mark <l Previous > Next r n L J Full Screen © Tutorial i Lab Values =* Notes Calculator Reverse Color CEA ) Text Zoom §! i Settings A (ChoiceC ) Glycogenstoragediseasescause defectivemetabolismof glycogenin the liverand/or , growthretardation, , lacticacidosis, hepatomegaly muscles. The presentationcan includehypoglycemia and/or musclefatigue/cramping. Cardiomegalycan occurwith Pompe disease, but cornealcloudingis not a feature. (Choice E ) Niemann-Pick disease resultsfrom a deficiencyof sphingomyelinase , whichleads to the accumulationof sphingomyelinwithinphagocytes. This disease is characterizedby hepatosplenomegaly and progressiveneurologicdeterioration , but eye findingsincludea cherry-red spot on the macula, not cornealclouding. Educational objective : Hurler syndromeis a mucopolysaccharidosis caused by a deficiencyof alpha-L-iduronidase, which hydrolyzesdermatanand heparan sulfate. Accumulationof these substancesresultsin the characteristic , coarse facialfeatures, cornealclouding , and hepatosplenomegaly . Early featuresof intellectualdisability death due to cardiaccomplications(eg, myocardialinfarction) is expected. References • Early diseaseprogressionof Hurler syndrome. Block Time Remaining:00:02:05 TUTOR https://t.me/USMLEWorldStep1 i Suspend O EndBlock — Item 1 of 1 Question W: 21503 P' Mark <l Previous > Next r n L J Full Screen © Tutorial i Lab Values =* Notes Calculator Reverse Color CEA) Text Zoom i§! Settings A ( Choice C ) Glycogen storage diseases cause defective metabolism of glycogen in the liver and /or muscles . The presentation can include hypoglycemia , lactic acidosis , hepatomegaly , growth retardation, and /or muscle fatigue /cramping. Cardiomegaly can occur with Pompe disease , but corneal clouding is not a feature. ( Choice E) Niemann -Pick disease results from a deficiency of sphingomyelinase , which leads to the accumulation of sphingomyelin within phagocytes . This disease is characterized by hepatosplenomegaly and progressive neurologic deterioration, but eye findings include a cherry-red spot on the macula , not corneal clouding . Educational objective: Hurler syndrome is a mucopolysaccharidosis caused by a deficiency of alpha -L-iduronidase , which hydrolyzes dermatan and heparan sulfate . Accumulation of these substances results in the characteristic features of intellectual disability, coarse facial features , corneal clouding, and hepatosplenomegaly . Early death due to cardiac complications (eg , myocardial infarction) is expected . References • Early disease progression of Hurler syndrome . Block Time Remaining: 00:02:05 TUTOR https://t.me /USMLEWorldStep1 i Suspend O End Block — Item 1 of 1 Question W: 21503 P' Mark <l Previous > Next rn L J Full Screen © Tutorial i Lab Values =* Notes Calculator Reverse Color CEA) Text Zoom i§! Settings A ( Choice C ) Glycogen storage diseases cause defective metabolism of glycogen in the liver and/or muscles. The presentation can include hypoglycemia, lactic acidosis, hepatomegaly, growth retardation, and/or muscle fatigue/cramping. Cardiomegaly can occur with Pompe disease, but corneal clouding is not a feature. ( Choice E) Niemann-Pick disease results from a deficiency of sphingomyelinase, which leads to the accumulation of sphingomyelin within phagocytes. This disease is characterized by hepatosplenomegaly and progressive neurologic deterioration, but eye findings include a cherry-red spot on the macula, not corneal clouding. Educational objective: Hurler syndrome is a mucopolysaccharidosis caused by a deficiency of alpha-L-iduronidase, which hydrolyzes dermatan and heparan sulfate. Accumulation of these substances results in the characteristic features of intellectual disability, coarse facial features, corneal clouding, and hepatosplenomegaly. Early death due to cardiac complications (eg, myocardial infarction) is expected. References • Early disease progression of Hurler syndrome. Block Time Remaining: 00:02:05 TUTOR https://t.me/USMLEWorldStep1 i Suspend O End Block — Item 1 of 1 Question W: 21503 P' Mark <l Previous > Next rn L J Full Screen © Tutorial i Lab Values =* Notes Calculator Reverse Color CEA) Text Zoom i§! Settings A ( Choice C ) Glycogen storage diseases cause defective metabolism of glycogen in the liver and/or muscles. The presentation can include hypoglycemia, lactic acidosis, hepatomegaly, growth retardation, and/or muscle fatigue/cramping. Cardiomegaly can occur with Pompe disease, but corneal clouding is not a feature. ( Choice E) Niemann-Pick disease results from a deficiency of sphingomyelinase, which leads to the accumulation of sphingomyelin within phagocytes. This disease is characterized by hepatosplenomegaly and progressive neurologic deterioration, but eye findings include a cherry-red spot on the macula, not corneal clouding. Educational objective: Hurler syndrome is a mucopolysaccharidosis caused by a deficiency of alpha-L-iduronidase, which hydrolyzes dermatan and heparan sulfate. Accumulation of these substances results in the characteristic features of intellectual disability, coarse facial features, corneal clouding, and hepatosplenomegaly. Early death due to cardiac complications (eg, myocardial infarction) is expected. References • Early disease progression of Hurler syndrome. Block Time Remaining: 00:02:05 TUTOR https://t.me/USMLEWorldStep1 i Suspend O End Block — Item 1 of 1 Question W: 21503 P' Mark <l Previous > Next r n L J Full Screen © Tutorial i Lab Values =* Notes Calculator Reverse Color CEA ) Text Zoom i§! Settings A ( Choice C ) Glycogenstoragediseasescause defectivemetabolismof glycogenin the liverand/or , growthretardation, , lacticacidosis, hepatomegaly muscles. The presentationcan includehypoglycemia and/or musclefatigue/cramping. Cardiomegalycan occurwith Pompe disease, but cornealcloudingis not a feature. ( Choice E) Niemann-Pick disease resultsfrom a deficiencyof sphingomyelinase , whichleads to the accumulationof sphingomyelinwithinphagocytes. This disease is characterizedby hepatosplenomegaly and progressiveneurologicdeterioration , but eye findingsincludea cherry-red spot on the macula, not cornealclouding. Educational objective : Hurler syndromeis a mucopolysaccharidosis caused by a deficiencyof alpha-L-iduronidase, which hydrolyzesdermatanand heparan sulfate. Accumulationof these substancesresultsin the characteristic , coarse facialfeatures, cornealclouding , and hepatosplenomegaly . Early featuresof intellectualdisability death due to cardiaccomplications(eg, myocardialinfarction) is expected. References • Early diseaseprogressionof Hurler syndrome. Block Time Remaining : 00:02: 05 TUTOR https://t.me/USMLEWorldStep1 i Suspend O EndBlock — Item 1 of 1 Question W: 21503 P' Mark <l Previous > Next r n L J Full Screen © Tutorial i Lab Values =* Notes Calculator Reverse Color CEA) Text Zoom i§! Settings A ( Choice C ) Glycogen storage diseases cause defective metabolism of glycogen in the liver and /or muscles . The presentation can include hypoglycemia , lactic acidosis , hepatomegaly , growth retardation, and /or muscle fatigue /cramping. Cardiomegaly can occur with Pompe disease , but corneal clouding is not a feature. ( Choice E) Niemann -Pick disease results from a deficiency of sphingomyelinase , which leads to the accumulation of sphingomyelin within phagocytes . This disease is characterized by hepatosplenomegaly and progressive neurologic deterioration, but eye findings include a cherry-red spot on the macula , not corneal clouding . Educational objective: Hurler syndrome is a mucopolysaccharidosis caused by a deficiency of alpha -L-iduronidase , which hydrolyzes dermatan and heparan sulfate . Accumulation of these substances results in the characteristic features of intellectual disability, coarse facial features , corneal clouding, and hepatosplenomegaly . Early death due to cardiac complications (eg , myocardial infarction) is expected . References • Early disease progression of Hurler syndrome . Block Time Remaining: 00:02:05 TUTOR https://t.me /USMLEWorldStep1 i Suspend O End Block — Item 1 of 1 Question W: 21503 P' Mark <l Previous > Next rn L J Full Screen © Tutorial i Lab Values =* Notes Calculator Reverse Color CEA) Text Zoom i§! Settings A ( Choice C ) Glycogen storage diseases cause defective metabolism of glycogen in the liver and/or muscles. The presentation can include hypoglycemia, lactic acidosis, hepatomegaly, growth retardation, and/or muscle fatigue/cramping. Cardiomegaly can occur with Pompe disease, but corneal clouding is not a feature. ( Choice E) Niemann-Pick disease results from a deficiency of sphingomyelinase, which leads to the accumulation of sphingomyelin within phagocytes. This disease is characterized by hepatosplenomegaly and progressive neurologic deterioration, but eye findings include a cherry-red spot on the macula, not corneal clouding. Educational objective: Hurler syndrome is a mucopolysaccharidosis caused by a deficiency of alpha-L-iduronidase, which hydrolyzes dermatan and heparan sulfate. Accumulation of these substances results in the characteristic features of intellectual disability, coarse facial features, corneal clouding, and hepatosplenomegaly. Early death due to cardiac complications (eg, myocardial infarction) is expected. References • Early disease progression of Hurler syndrome. Block Time Remaining: 00:02:05 TUTOR https://t.me/USMLEWorldStep1 i Suspend O End Block — Item 1 of 1 Question W: 21503 P' Mark <l > Previous Next r n L J Full Screen © Tutorial i LabValues =* Notes Calculator ReverseColor CEA ) TextZoom i§! Settings A ( Choice C ) Glycogenstorage diseases ofglycogen intheliver causedefective metabolism and/or hypoglycemia ,growthretardation , . The presentation ,lactic muscles acidosis can include ,hepatomegaly /cramping canoccurwithPompe disease and/ormusclefatigue isnot ,butcorneal clouding . Cardiomegaly a feature . ( Choice E) Niemann-Pickdiseaseresults ,whichleadstothe froma deficiency ofsphingomyelinase accumulation ofsphingomyelin phagocytes by hepatosplenomegaly within . Thisdiseaseischaracterized neurologic a cherry and progressive deterioration include ,buteye findings -redspoton themacula,not clouding corneal . Educational objective : ,which syndromeisa mucopolysaccharidosis Hurler ofalpha causedby a deficiency -L-iduronidase hydrolyzes results ofthesesubstances dermatanand heparansulfate inthecharacteristic . Accumulation ofintellectual features ,coarsefacial disability clouding ,corneal ,and hepatosplenomegaly . Early features (eg,myocardial )isexpected complications deathdue tocardiac infarction . References ofHurler syndrome. • Earlydiseaseprogression Block Time Remaining : 00:02: 05 TUTOR https ://t.me /USMLEWorldStep1 i O Suspend End Block — Item 1 of 1 Question W: 21503 P' Mark <l Previous > Next rn L J Full Screen © Tutorial i Lab Values =* Notes Calculator Reverse Color CEA) Text Zoom i§! Settings A ( Choice C ) Glycogen storage diseases cause defective metabolism of glycogen in the liver and/or muscles. The presentation can include hypoglycemia, lactic acidosis, hepatomegaly, growth retardation, and/or muscle fatigue/cramping. Cardiomegaly can occur with Pompe disease, but corneal clouding is not a feature. ( Choice E) Niemann-Pick disease results from a deficiency of sphingomyelinase, which leads to the accumulation of sphingomyelin within phagocytes. This disease is characterized by hepatosplenomegaly and progressive neurologic deterioration, but eye findings include a cherry-red spot on the macula, not corneal clouding. Educational objective: Hurler syndrome is a mucopolysaccharidosis caused by a deficiency of alpha-L-iduronidase, which hydrolyzes dermatan and heparan sulfate. Accumulation of these substances results in the characteristic features of intellectual disability, coarse facial features, corneal clouding, and hepatosplenomegaly. Early death due to cardiac complications (eg, myocardial infarction) is expected. References • Early disease progression of Hurler syndrome. Block Time Remaining: 00:02:05 TUTOR https://t.me/USMLEWorldStep1 i Suspend O End Block — Item 1 of 1 Question W: 21503 P' Mark <l Previous > Next rn L J Full Screen © Tutorial i Lab Values =* Notes Calculator Reverse Color CEA) Text Zoom i§! Settings A ( Choice C ) Glycogen storage diseases cause defective metabolism of glycogen in the liver and/or muscles. The presentation can include hypoglycemia, lactic acidosis, hepatomegaly, growth retardation, and/or muscle fatigue/cramping. Cardiomegaly can occur with Pompe disease, but corneal clouding is not a feature. ( Choice E) Niemann-Pick disease results from a deficiency of sphingomyelinase, which leads to the accumulation of sphingomyelin within phagocytes. This disease is characterized by hepatosplenomegaly and progressive neurologic deterioration, but eye findings include a cherry-red spot on the macula, not corneal clouding. Educational objective: Hurler syndrome is a mucopolysaccharidosis caused by a deficiency of alpha-L-iduronidase, which hydrolyzes dermatan and heparan sulfate. Accumulation of these substances results in the characteristic features of intellectual disability, coarse facial features, corneal clouding, and hepatosplenomegaly. Early death due to cardiac complications (eg, myocardial infarction) is expected. References • Early disease progression of Hurler syndrome. Block Time Remaining: 00:02:05 TUTOR https://t.me/USMLEWorldStep1 i Suspend O End Block — Item 1 of 1 Question W: 21503 P' Mark <l Previous > Next r n L J Full Screen © Tutorial i Lab Values =* Notes Calculator Reverse Color CEA) Text Zoom i§! Settings A ( Choice C ) Glycogen storage diseases cause defective metabolism of glycogen in the liver and/or muscles. The presentation can include hypoglycemia, lactic acidosis, hepatomegaly, growth retardation, and/or muscle fatigue/cramping. Cardiomegaly can occur with Pompe disease, but corneal clouding is not a feature. ( Choice E) Niemann-Pick disease results from a deficiency of sphingomyelinase, which leads to the accumulation of sphingomyelin within phagocytes. This disease is characterized by hepatosplenomegaly and progressive neurologic deterioration, but eye findings include a cherry-red spot on the macula, not corneal clouding. Educational objective: Hurler syndrome is a mucopolysaccharidosis caused by a deficiency of alpha-L-iduronidase, which hydrolyzes dermatan and heparan sulfate. Accumulation of these substances results in the characteristic features of intellectual disability, coarse facial features, corneal clouding, and hepatosplenomegaly. Early death due to cardiac complications (eg, myocardial infarction) is expected. References • Early disease progression of Hurler syndrome. Block Time Remaining: 00:02:05 TUTOR https://t.me/USMLEWorldStep1 i Suspend O End Block — Item 1 of 1 Question W: 21503 P' Mark <l Previous > Next rn L J Full Screen © Tutorial i Lab Values =* Notes Calculator Reverse Color CEA) Text Zoom i§! Settings A ( Choice C ) Glycogen storage diseases cause defective metabolism of glycogen in the liver and/or muscles. The presentation can include hypoglycemia, lactic acidosis, hepatomegaly, growth retardation, and/or muscle fatigue/cramping. Cardiomegaly can occur with Pompe disease, but corneal clouding is not a feature. ( Choice E) Niemann-Pick disease results from a deficiency of sphingomyelinase, which leads to the accumulation of sphingomyelin within phagocytes. This disease is characterized by hepatosplenomegaly and progressive neurologic deterioration, but eye findings include a cherry-red spot on the macula, not corneal clouding. Educational objective: Hurler syndrome is a mucopolysaccharidosis caused by a deficiency of alpha-L-iduronidase, which hydrolyzes dermatan and heparan sulfate. Accumulation of these substances results in the characteristic features of intellectual disability, coarse facial features, corneal clouding, and hepatosplenomegaly. Early death due to cardiac complications (eg, myocardial infarction) is expected. References • Early disease progression of Hurler syndrome. Block Time Remaining: 00:02:05 TUTOR https://t.me/USMLEWorldStep1 i Suspend O End Block — Item1 of1 QuestionW :21503 P'Mark <l Previous > Next r n L J Full Screen © Tutorial i Lab Values =* Notes Calculator Reverse Color CEA ) Text Zoom §! i Settings A (ChoiceC ) Glycogen storage diseases cause defective metabolism of glycogen in the liver and/or muscles. The presentation can include hypoglycemia, lactic acidosis, hepatomegaly, growth retardation, and/or muscle fatigue/cramping. Cardiomegaly can occur with Pompe disease, but corneal clouding is not a feature. (Choice E ) Niemann-Pick disease results from a deficiency of sphingomyelinase, which leads to the accumulation of sphingomyelin within phagocytes. This disease is characterized by hepatosplenomegaly and progressive neurologic deterioration, but eye findings include a cherry-red spot on the macula, not corneal clouding. Educational objective : Hurler syndrome is a mucopolysaccharidosis caused by a deficiency of alpha-L-iduronidase, which hydrolyzes dermatan and heparan sulfate. Accumulation of these substances results in the characteristic features of intellectual disability, coarse facial features, corneal clouding, and hepatosplenomegaly. Early death due to cardiac complications (eg, myocardial infarction) is expected. References • Early disease progression of Hurler syndrome. Block Time Remaining:00:02:05 TUTOR https://t.me/USMLEWorldStep1 i Suspend O End Block — Item 1 of 1 Question W: 21503 P' Mark <l Previous > Next rn L J Full Screen © Tutorial i Lab Values =* Notes Calculator Reverse Color CEA) Text Zoom i§! Settings A ( Choice C ) Glycogen storage diseases cause defective metabolism of glycogen in the liver and/or muscles. The presentation can include hypoglycemia, lactic acidosis, hepatomegaly, growth retardation, and/or muscle fatigue/cramping. Cardiomegaly can occur with Pompe disease, but corneal clouding is not a feature. ( Choice E) Niemann-Pick disease results from a deficiency of sphingomyelinase, which leads to the accumulation of sphingomyelin within phagocytes. This disease is characterized by hepatosplenomegaly and progressive neurologic deterioration, but eye findings include a cherry-red spot on the macula, not corneal clouding. Educational objective: Hurler syndrome is a mucopolysaccharidosis caused by a deficiency of alpha-L-iduronidase, which hydrolyzes dermatan and heparan sulfate. Accumulation of these substances results in the characteristic features of intellectual disability, coarse facial features, corneal clouding, and hepatosplenomegaly. Early death due to cardiac complications (eg, myocardial infarction) is expected. References • Early disease progression of Hurler syndrome. Block Time Remaining: 00:02:05 TUTOR https://t.me/USMLEWorldStep1 i Suspend O End Block — Item 1 of 1 Question W: 21503 P' Mark <l Previous > Next r n L J Full Screen © Tutorial i Lab Values =* Notes Calculator Reverse Color CEA) Text Zoom i§! Settings A ( Choice C ) Glycogenstoragediseasescause defectivemetabolismof glycogenin the liverand/or , growthretardation, , lacticacidosis, hepatomegaly muscles. The presentationcan includehypoglycemia and/or musclefatigue/cramping. Cardiomegalycan occurwith Pompe disease, but cornealcloudingis not a feature. ( Choice E) Niemann-Pick disease resultsfrom a deficiencyof sphingomyelinase , whichleads to the accumulationof sphingomyelinwithinphagocytes. This disease is characterizedby hepatosplenomegaly and progressiveneurologicdeterioration , but eye findingsincludea cherry-red spot on the macula, not cornealclouding. Educational objective: Hurler syndromeis a mucopolysaccharidosis caused by a deficiencyof alpha-L-iduronidase, which hydrolyzesdermatanand heparan sulfate. Accumulationof these substancesresultsin the characteristic , coarse facialfeatures, cornealclouding , and hepatosplenomegaly . Early featuresof intellectualdisability death due to cardiaccomplications(eg, myocardialinfarction) is expected. References • Early diseaseprogressionof Hurler syndrome. Block Time Remaining: 00:02:05 TUTOR https://t.me/USMLEWorldStep1 i Suspend O EndBlock — Item 1 of 1 Question W: 21503 P' Mark <l Previous > Next rn L J Full Screen © Tutorial i Lab Values =* Notes Calculator Reverse Color CEA) Text Zoom i§! Settings A ( Choice C ) Glycogen storage diseases cause defective metabolism of glycogen in the liver and/or muscles. The presentation can include hypoglycemia, lactic acidosis, hepatomegaly, growth retardation, and/or muscle fatigue/cramping. Cardiomegaly can occur with Pompe disease, but corneal clouding is not a feature. ( Choice E) Niemann-Pick disease results from a deficiency of sphingomyelinase, which leads to the accumulation of sphingomyelin within phagocytes. This disease is characterized by hepatosplenomegaly and progressive neurologic deterioration, but eye findings include a cherry-red spot on the macula, not corneal clouding. Educational objective: Hurler syndrome is a mucopolysaccharidosis caused by a deficiency of alpha-L-iduronidase, which hydrolyzes dermatan and heparan sulfate. Accumulation of these substances results in the characteristic features of intellectual disability, coarse facial features, corneal clouding, and hepatosplenomegaly. Early death due to cardiac complications (eg, myocardial infarction) is expected. References • Early disease progression of Hurler syndrome. Block Time Remaining: 00:02:05 TUTOR https://t.me/USMLEWorldStep1 i Suspend O End Block — Item 1 of 1 Question W: 21503 P' Mark <l Previous > Next rn L J Full Screen © Tutorial i Lab Values =* Notes Calculator Reverse Color CEA) Text Zoom i§! Settings A ( Choice C ) Glycogen storage diseases cause defective metabolism of glycogen in the liver and/or muscles. The presentation can include hypoglycemia, lactic acidosis, hepatomegaly, growth retardation, and/or muscle fatigue/cramping. Cardiomegaly can occur with Pompe disease, but corneal clouding is not a feature. ( Choice E) Niemann-Pick disease results from a deficiency of sphingomyelinase, which leads to the accumulation of sphingomyelin within phagocytes. This disease is characterized by hepatosplenomegaly and progressive neurologic deterioration, but eye findings include a cherry-red spot on the macula, not corneal clouding. Educational objective: Hurler syndrome is a mucopolysaccharidosis caused by a deficiency of alpha-L-iduronidase, which hydrolyzes dermatan and heparan sulfate. Accumulation of these substances results in the characteristic features of intellectual disability, coarse facial features, corneal clouding, and hepatosplenomegaly. Early death due to cardiac complications (eg, myocardial infarction) is expected. References • Early disease progression of Hurler syndrome. Block Time Remaining: 00:02:05 TUTOR https://t.me/USMLEWorldStep1 i Suspend O End Block — Item 1 of 1 Question W: 21503 P' Mark <l Previous > Next rn L J Full Screen © Tutorial i Lab Values =* Notes Calculator Reverse Color CEA) Text Zoom i§! Settings A ( Choice C ) Glycogen storage diseases cause defective metabolism of glycogen in the liver and/or muscles. The presentation can include hypoglycemia, lactic acidosis, hepatomegaly, growth retardation, and/or muscle fatigue/cramping. Cardiomegaly can occur with Pompe disease, but corneal clouding is not a feature. ( Choice E) Niemann-Pick disease results from a deficiency of sphingomyelinase, which leads to the accumulation of sphingomyelin within phagocytes. This disease is characterized by hepatosplenomegaly and progressive neurologic deterioration, but eye findings include a cherry-red spot on the macula, not corneal clouding. Educational objective: Hurler syndrome is a mucopolysaccharidosis caused by a deficiency of alpha-L-iduronidase, which hydrolyzes dermatan and heparan sulfate. Accumulation of these substances results in the characteristic features of intellectual disability, coarse facial features, corneal clouding, and hepatosplenomegaly. Early death due to cardiac complications (eg, myocardial infarction) is expected. References • Early disease progression of Hurler syndrome. Block Time Remaining: 00:02:05 TUTOR https://t.me/USMLEWorldStep1 i Suspend O End Block — Item1 of1 QuestionW :21503 P'Mark <l Previous > Next r n L J Full Screen © Tutorial i Lab Values =* Notes Calculator Reverse Color CEA ) Text Zoom §! i Settings A (ChoiceC ) Glycogen storage diseases cause defective metabolism of glycogen in the liver and/or muscles. The presentation can include hypoglycemia, lactic acidosis, hepatomegaly, growth retardation, and/or muscle fatigue/cramping. Cardiomegaly can occur with Pompe disease, but corneal clouding is not a feature. (Choice E ) Niemann-Pick disease results from a deficiency of sphingomyelinase, which leads to the accumulation of sphingomyelin within phagocytes. This disease is characterized by hepatosplenomegaly and progressive neurologic deterioration, but eye findings include a cherry-red spot on the macula, not corneal clouding. Educational objective : Hurler syndrome is a mucopolysaccharidosis caused by a deficiency of alpha-L-iduronidase, which hydrolyzes dermatan and heparan sulfate. Accumulation of these substances results in the characteristic features of intellectual disability, coarse facial features, corneal clouding, and hepatosplenomegaly. Early death due to cardiac complications (eg, myocardial infarction) is expected. References • Early disease progression of Hurler syndrome. Block Time Remaining:00:02:05 TUTOR https://t.me/USMLEWorldStep1 i Suspend O End Block — Item 1 of 1 Question W: 21503 P' Mark <l Previous > Next rn L J Full Screen © Tutorial i Lab Values =* Notes Calculator Reverse Color CEA) Text Zoom i§! Settings A ( Choice C ) Glycogen storage diseases cause defective metabolism of glycogen in the liver and/or muscles. The presentation can include hypoglycemia, lactic acidosis, hepatomegaly, growth retardation, and/or muscle fatigue/cramping. Cardiomegaly can occur with Pompe disease, but corneal clouding is not a feature. ( Choice E) Niemann-Pick disease results from a deficiency of sphingomyelinase, which leads to the accumulation of sphingomyelin within phagocytes. This disease is characterized by hepatosplenomegaly and progressive neurologic deterioration, but eye findings include a cherry-red spot on the macula, not corneal clouding. Educational objective: Hurler syndrome is a mucopolysaccharidosis caused by a deficiency of alpha-L-iduronidase, which hydrolyzes dermatan and heparan sulfate. Accumulation of these substances results in the characteristic features of intellectual disability, coarse facial features, corneal clouding, and hepatosplenomegaly. Early death due to cardiac complications (eg, myocardial infarction) is expected. References • Early disease progression of Hurler syndrome. Block Time Remaining: 00:02:05 TUTOR https://t.me/USMLEWorldStep1 i Suspend O End Block — Item 1 of 1 Question W: 21503 P' Mark <l Previous > Next rn L J Full Screen © Tutorial i Lab Values =* Notes Calculator Reverse Color CEA) Text Zoom i§! Settings A ( Choice C ) Glycogen storage diseases cause defective metabolism of glycogen in the liver and/or muscles. The presentation can include hypoglycemia, lactic acidosis, hepatomegaly, growth retardation, and/or muscle fatigue/cramping. Cardiomegaly can occur with Pompe disease, but corneal clouding is not a feature. ( Choice E) Niemann-Pick disease results from a deficiency of sphingomyelinase, which leads to the accumulation of sphingomyelin within phagocytes. This disease is characterized by hepatosplenomegaly and progressive neurologic deterioration, but eye findings include a cherry-red spot on the macula, not corneal clouding. Educational objective: Hurler syndrome is a mucopolysaccharidosis caused by a deficiency of alpha-L-iduronidase, which hydrolyzes dermatan and heparan sulfate. Accumulation of these substances results in the characteristic features of intellectual disability, coarse facial features, corneal clouding, and hepatosplenomegaly. Early death due to cardiac complications (eg, myocardial infarction) is expected. References • Early disease progression of Hurler syndrome. Block Time Remaining: 00:02:05 TUTOR https://t.me/USMLEWorldStep1 i Suspend O End Block — Item1 of1 QuestionW :21503 P'Mark <l Previous > Next r n L J Full Screen © Tutorial i Lab Values =* Notes Calculator Reverse Color CEA ) Text Zoom §! i Settings A (ChoiceC ) Glycogen storage diseases cause defective metabolism of glycogen in the liver and/or muscles. The presentation can include hypoglycemia, lactic acidosis, hepatomegaly, growth retardation, and/or muscle fatigue/cramping. Cardiomegaly can occur with Pompe disease, but corneal clouding is not a feature. (Choice E ) Niemann-Pick disease results from a deficiency of sphingomyelinase, which leads to the accumulation of sphingomyelin within phagocytes. This disease is characterized by hepatosplenomegaly and progressive neurologic deterioration, but eye findings include a cherry-red spot on the macula, not corneal clouding. Educational objective : Hurler syndrome is a mucopolysaccharidosis caused by a deficiency of alpha-L-iduronidase, which hydrolyzes dermatan and heparan sulfate. Accumulation of these substances results in the characteristic features of intellectual disability, coarse facial features, corneal clouding, and hepatosplenomegaly. Early death due to cardiac complications (eg, myocardial infarction) is expected. References • Early disease progression of Hurler syndrome. Block Time Remaining:00:02:05 TUTOR https://t.me/USMLEWorldStep1 i Suspend O End Block — Item 1 of 1 Question W: 21503 P' Mark <l Previous > Next rn L J Full Screen © Tutorial i Lab Values =* Notes Calculator Reverse Color CEA) Text Zoom i§! Settings A ( Choice C ) Glycogen storage diseases cause defective metabolism of glycogen in the liver and/or muscles. The presentation can include hypoglycemia, lactic acidosis, hepatomegaly, growth retardation, and/or muscle fatigue/cramping. Cardiomegaly can occur with Pompe disease, but corneal clouding is not a feature. ( Choice E) Niemann-Pick disease results from a deficiency of sphingomyelinase, which leads to the accumulation of sphingomyelin within phagocytes. This disease is characterized by hepatosplenomegaly and progressive neurologic deterioration, but eye findings include a cherry-red spot on the macula, not corneal clouding. Educational objective: Hurler syndrome is a mucopolysaccharidosis caused by a deficiency of alpha-L-iduronidase, which hydrolyzes dermatan and heparan sulfate. Accumulation of these substances results in the characteristic features of intellectual disability, coarse facial features, corneal clouding, and hepatosplenomegaly. Early death due to cardiac complications (eg, myocardial infarction) is expected. References • Early disease progression of Hurler syndrome. Block Time Remaining: 00:02:05 TUTOR https://t.me/USMLEWorldStep1 i Suspend O End Block — Item1 of1 QuestionW :21503 P'Mark <l Previous > Next r n L J Full Screen © Tutorial i Lab Values =* Notes Calculator Reverse Color CEA ) Text Zoom §! i Settings A (ChoiceC ) Glycogen storage diseases cause defective metabolism of glycogen in the liver and/or muscles. The presentation can include hypoglycemia, lactic acidosis, hepatomegaly, growth retardation, and/or muscle fatigue/cramping. Cardiomegaly can occur with Pompe disease, but corneal clouding is not a feature. (Choice E ) Niemann-Pick disease results from a deficiency of sphingomyelinase, which leads to the accumulation of sphingomyelin within phagocytes. This disease is characterized by hepatosplenomegaly and progressive neurologic deterioration, but eye findings include a cherry-red spot on the macula, not corneal clouding. Educational objective : Hurler syndrome is a mucopolysaccharidosis caused by a deficiency of alpha-L-iduronidase, which hydrolyzes dermatan and heparan sulfate. Accumulation of these substances results in the characteristic features of intellectual disability, coarse facial features, corneal clouding, and hepatosplenomegaly. Early death due to cardiac complications (eg, myocardial infarction) is expected. References • Early disease progression of Hurler syndrome. Block Time Remaining:00:02:05 TUTOR https://t.me/USMLEWorldStep1 i Suspend O End Block — Item 1 of 1 Question W: 21503 P' Mark <l Previous > Next r n L J Full Screen © Tutorial i Lab Values =* Notes Calculator Reverse Color CEA ) Text Zoom i§! Settings A ( Choice C ) Glycogenstoragediseasescause defectivemetabolismof glycogenin the liverand/or , growthretardation, , lacticacidosis, hepatomegaly muscles. The presentationcan includehypoglycemia and/or musclefatigue/cramping. Cardiomegalycan occurwith Pompe disease, but cornealcloudingis not a feature. ( Choice E) Niemann-Pick disease resultsfrom a deficiencyof sphingomyelinase , whichleads to the accumulationof sphingomyelinwithinphagocytes. This disease is characterizedby hepatosplenomegaly and progressiveneurologicdeterioration , but eye findingsincludea cherry-red spot on the macula, not cornealclouding. Educational objective : Hurler syndromeis a mucopolysaccharidosis caused by a deficiencyof alpha-L-iduronidase, which hydrolyzesdermatanand heparan sulfate. Accumulationof these substancesresultsin the characteristic , coarse facialfeatures, cornealclouding , and hepatosplenomegaly . Early featuresof intellectualdisability death due to cardiaccomplications(eg, myocardialinfarction) is expected. References • Early diseaseprogressionof Hurler syndrome. Block Time Remaining : 00:02: 05 TUTOR https://t.me/USMLEWorldStep1 i Suspend O EndBlock — Item 1 of 1 Question W: 21503 P' Mark <l Previous > Next rn L J Full Screen © Tutorial i Lab Values =* Notes Calculator Reverse Color CEA) Text Zoom i§! Settings A ( Choice C ) Glycogen storage diseases cause defective metabolism of glycogen in the liver and/or muscles. The presentation can include hypoglycemia, lactic acidosis, hepatomegaly, growth retardation, and/or muscle fatigue/cramping. Cardiomegaly can occur with Pompe disease, but corneal clouding is not a feature. ( Choice E) Niemann-Pick disease results from a deficiency of sphingomyelinase, which leads to the accumulation of sphingomyelin within phagocytes. This disease is characterized by hepatosplenomegaly and progressive neurologic deterioration, but eye findings include a cherry-red spot on the macula, not corneal clouding. Educational objective: Hurler syndrome is a mucopolysaccharidosis caused by a deficiency of alpha-L-iduronidase, which hydrolyzes dermatan and heparan sulfate. Accumulation of these substances results in the characteristic features of intellectual disability, coarse facial features, corneal clouding, and hepatosplenomegaly. Early death due to cardiac complications (eg, myocardial infarction) is expected. References • Early disease progression of Hurler syndrome. Block Time Remaining: 00:02:05 TUTOR https://t.me/USMLEWorldStep1 i Suspend O End Block — Item 1 of 1 Question W: 21503 P' Mark <l Previous > Next rn L J Full Screen © Tutorial i Lab Values =* Notes Calculator Reverse Color CEA) Text Zoom i§! Settings A ( Choice C ) Glycogen storage diseases cause defective metabolism of glycogen in the liver and/or muscles. The presentation can include hypoglycemia, lactic acidosis, hepatomegaly, growth retardation, and/or muscle fatigue/cramping. Cardiomegaly can occur with Pompe disease, but corneal clouding is not a feature. ( Choice E) Niemann-Pick disease results from a deficiency of sphingomyelinase, which leads to the accumulation of sphingomyelin within phagocytes. This disease is characterized by hepatosplenomegaly and progressive neurologic deterioration, but eye findings include a cherry-red spot on the macula, not corneal clouding. Educational objective: Hurler syndrome is a mucopolysaccharidosis caused by a deficiency of alpha-L-iduronidase, which hydrolyzes dermatan and heparan sulfate. Accumulation of these substances results in the characteristic features of intellectual disability, coarse facial features, corneal clouding, and hepatosplenomegaly. Early death due to cardiac complications (eg, myocardial infarction) is expected. References • Early disease progression of Hurler syndrome. Block Time Remaining: 00:02:05 TUTOR https://t.me/USMLEWorldStep1 i Suspend O End Block — Item 1 of 1 Question W: 21503 P' Mark <l Previous > Next r n L J Full Screen © Tutorial i Lab Values =* Notes Calculator Reverse Color CEA) Text Zoom i§! Settings A ( Choice C ) Glycogen storage diseases cause defective metabolism of glycogen in the liver and/or muscles. The presentation can include hypoglycemia, lactic acidosis, hepatomegaly, growth retardation, and/or muscle fatigue/cramping. Cardiomegaly can occur with Pompe disease, but corneal clouding is not a feature. ( Choice E) Niemann-Pick disease results from a deficiency of sphingomyelinase, which leads to the accumulation of sphingomyelin within phagocytes. This disease is characterized by hepatosplenomegaly and progressive neurologic deterioration, but eye findings include a cherry-red spot on the macula, not corneal clouding. Educational objective: Hurler syndrome is a mucopolysaccharidosis caused by a deficiency of alpha-L-iduronidase, which hydrolyzes dermatan and heparan sulfate. Accumulation of these substances results in the characteristic features of intellectual disability, coarse facial features, corneal clouding, and hepatosplenomegaly. Early death due to cardiac complications (eg, myocardial infarction) is expected. References • Early disease progression of Hurler syndrome. Block Time Remaining: 00:02:05 TUTOR https://t.me/USMLEWorldStep1 i Suspend O End Block — Item 1 of 1 Question W: 21503 P' Mark <l Previous > Next rn L J Full Screen © Tutorial i Lab Values =* Notes Calculator Reverse Color CEA) Text Zoom i§! Settings A ( Choice C ) Glycogen storage diseases cause defective metabolism of glycogen in the liver and/or muscles. The presentation can include hypoglycemia, lactic acidosis, hepatomegaly, growth retardation, and/or muscle fatigue/cramping. Cardiomegaly can occur with Pompe disease, but corneal clouding is not a feature. ( Choice E) Niemann-Pick disease results from a deficiency of sphingomyelinase, which leads to the accumulation of sphingomyelin within phagocytes. This disease is characterized by hepatosplenomegaly and progressive neurologic deterioration, but eye findings include a cherry-red spot on the macula, not corneal clouding. Educational objective: Hurler syndrome is a mucopolysaccharidosis caused by a deficiency of alpha-L-iduronidase, which hydrolyzes dermatan and heparan sulfate. Accumulation of these substances results in the characteristic features of intellectual disability, coarse facial features, corneal clouding, and hepatosplenomegaly. Early death due to cardiac complications (eg, myocardial infarction) is expected. References • Early disease progression of Hurler syndrome. Block Time Remaining: 00:02:05 TUTOR https://t.me/USMLEWorldStep1 i Suspend O End Block — Item1 of1 QuestionW :21503 P'Mark <l Previous > Next r n L J Full Screen © Tutorial i Lab Values =* Notes Calculator Reverse Color CEA ) Text Zoom §! i Settings A (ChoiceC ) Glycogenstoragediseasescause defectivemetabolismof glycogenin the liverand/or , growthretardation, , lacticacidosis, hepatomegaly muscles. The presentationcan includehypoglycemia and/or musclefatigue/cramping. Cardiomegalycan occurwith Pompe disease, but cornealcloudingis not a feature. (Choice E ) Niemann-Pick disease resultsfrom a deficiencyof sphingomyelinase , whichleads to the accumulationof sphingomyelinwithinphagocytes. This disease is characterizedby hepatosplenomegaly and progressiveneurologicdeterioration , but eye findingsincludea cherry-red spot on the macula, not cornealclouding. Educational objective : Hurler syndromeis a mucopolysaccharidosis caused by a deficiencyof alpha-L-iduronidase, which hydrolyzesdermatanand heparan sulfate. Accumulationof these substancesresultsin the characteristic , coarse facialfeatures, cornealclouding , and hepatosplenomegaly . Early featuresof intellectualdisability death due to cardiaccomplications(eg, myocardialinfarction) is expected. References • Early diseaseprogressionof Hurler syndrome. Block Time Remaining:00:02:05 TUTOR https://t.me/USMLEWorldStep1 i Suspend O EndBlock — Item 1 of 1 Question W: 21503 P' Mark <l Previous > Next rn L J Full Screen © Tutorial i Lab Values =* Notes Calculator Reverse Color CEA) Text Zoom i§! Settings A ( Choice C ) Glycogen storage diseases cause defective metabolism of glycogen in the liver and/or muscles. The presentation can include hypoglycemia, lactic acidosis, hepatomegaly, growth retardation, and/or muscle fatigue/cramping. Cardiomegaly can occur with Pompe disease, but corneal clouding is not a feature. ( Choice E) Niemann-Pick disease results from a deficiency of sphingomyelinase, which leads to the accumulation of sphingomyelin within phagocytes. This disease is characterized by hepatosplenomegaly and progressive neurologic deterioration, but eye findings include a cherry-red spot on the macula, not corneal clouding. Educational objective: Hurler syndrome is a mucopolysaccharidosis caused by a deficiency of alpha-L-iduronidase, which hydrolyzes dermatan and heparan sulfate. Accumulation of these substances results in the characteristic features of intellectual disability, coarse facial features, corneal clouding, and hepatosplenomegaly. Early death due to cardiac complications (eg, myocardial infarction) is expected. References • Early disease progression of Hurler syndrome. Block Time Remaining: 00:02:05 TUTOR https://t.me/USMLEWorldStep1 i Suspend O End Block — Item 1 of 1 Question W: 21503 P' Mark <l Previous > Next rn L J Full Screen © Tutorial i Lab Values =* Notes Calculator Reverse Color CEA) Text Zoom i§! Settings A ( Choice C ) Glycogen storage diseases cause defective metabolism of glycogen in the liver and/or muscles. The presentation can include hypoglycemia, lactic acidosis, hepatomegaly, growth retardation, and/or muscle fatigue/cramping. Cardiomegaly can occur with Pompe disease, but corneal clouding is not a feature. ( Choice E) Niemann-Pick disease results from a deficiency of sphingomyelinase, which leads to the accumulation of sphingomyelin within phagocytes. This disease is characterized by hepatosplenomegaly and progressive neurologic deterioration, but eye findings include a cherry-red spot on the macula, not corneal clouding. Educational objective: Hurler syndrome is a mucopolysaccharidosis caused by a deficiency of alpha-L-iduronidase, which hydrolyzes dermatan and heparan sulfate. Accumulation of these substances results in the characteristic features of intellectual disability, coarse facial features, corneal clouding, and hepatosplenomegaly. Early death due to cardiac complications (eg, myocardial infarction) is expected. References • Early disease progression of Hurler syndrome. Block Time Remaining: 00:02:05 TUTOR https://t.me/USMLEWorldStep1 i Suspend O End Block — Item 1 of 1 Question W: 21503 P' Mark <l Previous > Next r n L J Full Screen © Tutorial i Lab Values =* Notes Calculator Reverse Color CEA ) Text Zoom i§! Settings A ( Choice C ) Glycogenstoragediseasescause defectivemetabolismof glycogenin the liverand/or , growthretardation, , lacticacidosis, hepatomegaly muscles. The presentationcan includehypoglycemia and/or musclefatigue/cramping. Cardiomegalycan occurwith Pompe disease, but cornealcloudingis not a feature. ( Choice E) Niemann-Pick disease resultsfrom a deficiencyof sphingomyelinase , whichleads to the accumulationof sphingomyelinwithinphagocytes. This disease is characterizedby hepatosplenomegaly and progressiveneurologicdeterioration , but eye findingsincludea cherry-red spot on the macula, not cornealclouding. Educational objective : Hurler syndromeis a mucopolysaccharidosis caused by a deficiencyof alpha-L-iduronidase, which hydrolyzesdermatanand heparan sulfate. Accumulationof these substancesresultsin the characteristic , coarse facialfeatures, cornealclouding , and hepatosplenomegaly . Early featuresof intellectualdisability death due to cardiaccomplications(eg, myocardialinfarction) is expected. References • Early diseaseprogressionof Hurler syndrome. Block Time Remaining : 00:02: 05 TUTOR https://t.me/USMLEWorldStep1 i Suspend O EndBlock — Item1 of1 QuestionW :21503 P'Mark <l Previous > Next r n L J Full Screen © Tutorial i Lab Values =* Notes Calculator Reverse Color CEA ) Text Zoom §! i Settings A (ChoiceC ) Glycogen storage diseases cause defective metabolism of glycogen in the liver and/or muscles. The presentation can include hypoglycemia, lactic acidosis, hepatomegaly, growth retardation, and/or muscle fatigue/cramping. Cardiomegaly can occur with Pompe disease, but corneal clouding is not a feature. (Choice E ) Niemann-Pick disease results from a deficiency of sphingomyelinase, which leads to the accumulation of sphingomyelin within phagocytes. This disease is characterized by hepatosplenomegaly and progressive neurologic deterioration, but eye findings include a cherry-red spot on the macula, not corneal clouding. Educational objective : Hurler syndrome is a mucopolysaccharidosis caused by a deficiency of alpha-L-iduronidase, which hydrolyzes dermatan and heparan sulfate. Accumulation of these substances results in the characteristic features of intellectual disability, coarse facial features, corneal clouding, and hepatosplenomegaly. Early death due to cardiac complications (eg, myocardial infarction) is expected. References • Early disease progression of Hurler syndrome. Block Time Remaining:00:02:05 TUTOR https://t.me/USMLEWorldStep1 i Suspend O End Block — Item 1 of 1 Question W: 21503 P' Mark <l Previous > Next rn L J Full Screen © Tutorial i Lab Values =* Notes Calculator Reverse Color CEA) Text Zoom i§! Settings A ( Choice C ) Glycogen storage diseases cause defective metabolism of glycogen in the liver and/or muscles. The presentation can include hypoglycemia, lactic acidosis, hepatomegaly, growth retardation, and/or muscle fatigue/cramping. Cardiomegaly can occur with Pompe disease, but corneal clouding is not a feature. ( Choice E) Niemann-Pick disease results from a deficiency of sphingomyelinase, which leads to the accumulation of sphingomyelin within phagocytes. This disease is characterized by hepatosplenomegaly and progressive neurologic deterioration, but eye findings include a cherry-red spot on the macula, not corneal clouding. Educational objective: Hurler syndrome is a mucopolysaccharidosis caused by a deficiency of alpha-L-iduronidase, which hydrolyzes dermatan and heparan sulfate. Accumulation of these substances results in the characteristic features of intellectual disability, coarse facial features, corneal clouding, and hepatosplenomegaly. Early death due to cardiac complications (eg, myocardial infarction) is expected. References • Early disease progression of Hurler syndrome. Block Time Remaining: 00:02:05 TUTOR https://t.me/USMLEWorldStep1 i Suspend O End Block — Item 1 of 1 Question W: 21503 P' Mark <l Previous > Next rn L J Full Screen © Tutorial i Lab Values =* Notes Calculator Reverse Color CEA) Text Zoom i§! Settings A ( Choice C ) Glycogen storage diseases cause defective metabolism of glycogen in the liver and/or muscles. The presentation can include hypoglycemia, lactic acidosis, hepatomegaly, growth retardation, and/or muscle fatigue/cramping. Cardiomegaly can occur with Pompe disease, but corneal clouding is not a feature. ( Choice E) Niemann-Pick disease results from a deficiency of sphingomyelinase, which leads to the accumulation of sphingomyelin within phagocytes. This disease is characterized by hepatosplenomegaly and progressive neurologic deterioration, but eye findings include a cherry-red spot on the macula, not corneal clouding. Educational objective: Hurler syndrome is a mucopolysaccharidosis caused by a deficiency of alpha-L-iduronidase, which hydrolyzes dermatan and heparan sulfate. Accumulation of these substances results in the characteristic features of intellectual disability, coarse facial features, corneal clouding, and hepatosplenomegaly. Early death due to cardiac complications (eg, myocardial infarction) is expected. References • Early disease progression of Hurler syndrome. Block Time Remaining: 00:02:05 TUTOR https://t.me/USMLEWorldStep1 i Suspend O End Block — Item1 of1 QuestionW :21503 P'Mark <l Previous > Next r n L J Full Screen © Tutorial i Lab Values =* Notes Calculator Reverse Color CEA ) Text Zoom §! i Settings A (ChoiceC ) Glycogenstoragediseasescause defectivemetabolismof glycogenin the liverand/or , growthretardation, , lacticacidosis, hepatomegaly muscles. The presentationcan includehypoglycemia and/or musclefatigue/cramping. Cardiomegalycan occurwith Pompe disease, but cornealcloudingis not a feature. (Choice E ) Niemann-Pick disease resultsfrom a deficiencyof sphingomyelinase , whichleads to the accumulationof sphingomyelinwithinphagocytes. This disease is characterizedby hepatosplenomegaly and progressiveneurologicdeterioration , but eye findingsincludea cherry-red spot on the macula, not cornealclouding. Educational objective : Hurler syndromeis a mucopolysaccharidosis caused by a deficiencyof alpha-L-iduronidase, which hydrolyzesdermatanand heparan sulfate. Accumulationof these substancesresultsin the characteristic , coarse facialfeatures, cornealclouding , and hepatosplenomegaly . Early featuresof intellectualdisability death due to cardiaccomplications(eg, myocardialinfarction) is expected. References • Early diseaseprogressionof Hurler syndrome. Block Time Remaining:00:02:05 TUTOR https://t.me/USMLEWorldStep1 i Suspend O EndBlock — Item1 of1 QuestionW :21503 P'Mark <l Previous > Next r n L J Full Screen © Tutorial i Lab Values =* Notes Calculator Reverse Color CEA ) Text Zoom §! i Settings A (ChoiceC ) Glycogenstoragediseasescause defectivemetabolismof glycogenin the liverand/or , growthretardation, , lacticacidosis, hepatomegaly muscles. The presentationcan includehypoglycemia and/or musclefatigue/cramping. Cardiomegalycan occurwith Pompe disease, but cornealcloudingis not a feature. (Choice E ) Niemann-Pick disease resultsfrom a deficiencyof sphingomyelinase , whichleads to the accumulationof sphingomyelinwithinphagocytes. This disease is characterizedby hepatosplenomegaly and progressiveneurologicdeterioration , but eye findingsincludea cherry-red spot on the macula, not cornealclouding. Educational objective : Hurler syndromeis a mucopolysaccharidosis caused by a deficiencyof alpha-L-iduronidase, which hydrolyzesdermatanand heparan sulfate. Accumulationof these substancesresultsin the characteristic , coarse facialfeatures, cornealclouding , and hepatosplenomegaly . Early featuresof intellectualdisability death due to cardiaccomplications(eg, myocardialinfarction) is expected. References • Early diseaseprogressionof Hurler syndrome. Block Time Remaining:00:02:05 TUTOR https://t.me/USMLEWorldStep1 i Suspend O EndBlock — Item 1 of 1 Question W: 21503 P' Mark <l Previous > Next r n L J Full Screen © Tutorial i Lab Values =* Notes Calculator Reverse Color CEA) Text Zoom i§! Settings A ( Choice C ) Glycogen storage diseases cause defective metabolism of glycogen in the liver and/or muscles. The presentation can include hypoglycemia, lactic acidosis, hepatomegaly, growth retardation, and/or muscle fatigue/cramping. Cardiomegaly can occur with Pompe disease, but corneal clouding is not a feature. ( Choice E) Niemann-Pick disease results from a deficiency of sphingomyelinase, which leads to the accumulation of sphingomyelin within phagocytes. This disease is characterized by hepatosplenomegaly and progressive neurologic deterioration, but eye findings include a cherry-red spot on the macula, not corneal clouding. Educational objective: Hurler syndrome is a mucopolysaccharidosis caused by a deficiency of alpha-L-iduronidase, which hydrolyzes dermatan and heparan sulfate. Accumulation of these substances results in the characteristic features of intellectual disability, coarse facial features, corneal clouding, and hepatosplenomegaly. Early death due to cardiac complications (eg, myocardial infarction) is expected. References • Early disease progression of Hurler syndrome. Block Time Remaining: 00:02:05 TUTOR https://t.me/USMLEWorldStep1 i Suspend O End Block — Item 1 of 1 Question W: 21503 P' Mark <l Previous > Next rn L J Full Screen © Tutorial i Lab Values =* Notes Calculator Reverse Color CEA) Text Zoom i§! Settings A ( Choice C ) Glycogen storage diseases cause defective metabolism of glycogen in the liver and/or muscles. The presentation can include hypoglycemia, lactic acidosis, hepatomegaly, growth retardation, and/or muscle fatigue/cramping. Cardiomegaly can occur with Pompe disease, but corneal clouding is not a feature. ( Choice E) Niemann-Pick disease results from a deficiency of sphingomyelinase, which leads to the accumulation of sphingomyelin within phagocytes. This disease is characterized by hepatosplenomegaly and progressive neurologic deterioration, but eye findings include a cherry-red spot on the macula, not corneal clouding. Educational objective: Hurler syndrome is a mucopolysaccharidosis caused by a deficiency of alpha-L-iduronidase, which hydrolyzes dermatan and heparan sulfate. Accumulation of these substances results in the characteristic features of intellectual disability, coarse facial features, corneal clouding, and hepatosplenomegaly. Early death due to cardiac complications (eg, myocardial infarction) is expected. References • Early disease progression of Hurler syndrome. Block Time Remaining: 00:02:05 TUTOR https://t.me/USMLEWorldStep1 i Suspend O End Block — Item 1 of 1 Question W: 21503 P' Mark <l Previous > Next rn L J Full Screen © Tutorial i Lab Values =* Notes Calculator Reverse Color CEA) Text Zoom i§! Settings A ( Choice C ) Glycogen storage diseases cause defective metabolism of glycogen in the liver and/or muscles. The presentation can include hypoglycemia, lactic acidosis, hepatomegaly, growth retardation, and/or muscle fatigue/cramping. Cardiomegaly can occur with Pompe disease, but corneal clouding is not a feature. ( Choice E) Niemann-Pick disease results from a deficiency of sphingomyelinase, which leads to the accumulation of sphingomyelin within phagocytes. This disease is characterized by hepatosplenomegaly and progressive neurologic deterioration, but eye findings include a cherry-red spot on the macula, not corneal clouding. Educational objective: Hurler syndrome is a mucopolysaccharidosis caused by a deficiency of alpha-L-iduronidase, which hydrolyzes dermatan and heparan sulfate. Accumulation of these substances results in the characteristic features of intellectual disability, coarse facial features, corneal clouding, and hepatosplenomegaly. Early death due to cardiac complications (eg, myocardial infarction) is expected. References • Early disease progression of Hurler syndrome. Block Time Remaining: 00:02:05 TUTOR https://t.me/USMLEWorldStep1 i Suspend O End Block — Item1 of1 QuestionW :21503 P'Mark <l Previous > Next r n L J Full Screen © Tutorial i Lab Values =* Notes Calculator Reverse Color CEA ) Text Zoom §! i Settings A (ChoiceC ) Glycogen storage diseases cause defective metabolism of glycogen in the liver and/or muscles. The presentation can include hypoglycemia, lactic acidosis, hepatomegaly, growth retardation, and/or muscle fatigue/cramping. Cardiomegaly can occur with Pompe disease, but corneal clouding is not a feature. (Choice E ) Niemann-Pick disease results from a deficiency of sphingomyelinase, which leads to the accumulation of sphingomyelin within phagocytes. This disease is characterized by hepatosplenomegaly and progressive neurologic deterioration, but eye findings include a cherry-red spot on the macula, not corneal clouding. Educational objective : Hurler syndrome is a mucopolysaccharidosis caused by a deficiency of alpha-L-iduronidase, which hydrolyzes dermatan and heparan sulfate. Accumulation of these substances results in the characteristic features of intellectual disability, coarse facial features, corneal clouding, and hepatosplenomegaly. Early death due to cardiac complications (eg, myocardial infarction) is expected. References • Early disease progression of Hurler syndrome. Block Time Remaining:00:02:05 TUTOR https://t.me/USMLEWorldStep1 i Suspend O End Block — Item1 of1 QuestionW :21503 P'Mark <l Previous > Next r n L J Full Screen © Tutorial i Lab Values =* Notes Calculator Reverse Color CEA ) Text Zoom §! i Settings A (ChoiceC ) Glycogenstoragediseasescause defectivemetabolismof glycogenin the liverand/or , growthretardation, , lacticacidosis, hepatomegaly muscles. The presentationcan includehypoglycemia and/or musclefatigue/cramping. Cardiomegalycan occurwith Pompe disease, but cornealcloudingis not a feature. (Choice E ) Niemann-Pick disease resultsfrom a deficiencyof sphingomyelinase , whichleads to the accumulationof sphingomyelinwithinphagocytes. This disease is characterizedby hepatosplenomegaly and progressiveneurologicdeterioration , but eye findingsincludea cherry-red spot on the macula, not cornealclouding. Educational objective : Hurler syndromeis a mucopolysaccharidosis caused by a deficiencyof alpha-L-iduronidase, which hydrolyzesdermatanand heparan sulfate. Accumulationof these substancesresultsin the characteristic , coarse facialfeatures, cornealclouding , and hepatosplenomegaly . Early featuresof intellectualdisability death due to cardiaccomplications(eg, myocardialinfarction) is expected. References • Early diseaseprogressionof Hurler syndrome. Block Time Remaining:00:02:05 TUTOR https://t.me/USMLEWorldStep1 i Suspend O EndBlock — Item 1 of 1 Question W: 21503 P' Mark <l Previous > Next rn L J Full Screen © Tutorial i Lab Values =* Notes Calculator Reverse Color CEA) Text Zoom i§! Settings A ( Choice C ) Glycogen storage diseases cause defective metabolism of glycogen in the liver and/or muscles. The presentation can include hypoglycemia, lactic acidosis, hepatomegaly, growth retardation, and/or muscle fatigue/cramping. Cardiomegaly can occur with Pompe disease, but corneal clouding is not a feature. ( Choice E) Niemann-Pick disease results from a deficiency of sphingomyelinase, which leads to the accumulation of sphingomyelin within phagocytes. This disease is characterized by hepatosplenomegaly and progressive neurologic deterioration, but eye findings include a cherry-red spot on the macula, not corneal clouding. Educational objective: Hurler syndrome is a mucopolysaccharidosis caused by a deficiency of alpha-L-iduronidase, which hydrolyzes dermatan and heparan sulfate. Accumulation of these substances results in the characteristic features of intellectual disability, coarse facial features, corneal clouding, and hepatosplenomegaly. Early death due to cardiac complications (eg, myocardial infarction) is expected. References • Early disease progression of Hurler syndrome. Block Time Remaining: 00:02:05 TUTOR https://t.me/USMLEWorldStep1 i Suspend O End Block — Item 1 of 1 Question W: 21503 P' Mark <l Previous > Next rn L J Full Screen © Tutorial i Lab Values =* Notes Calculator Reverse Color CEA) Text Zoom i§! Settings A ( Choice C ) Glycogen storage diseases cause defective metabolism of glycogen in the liver and/or muscles. The presentation can include hypoglycemia, lactic acidosis, hepatomegaly, growth retardation, and/or muscle fatigue/cramping. Cardiomegaly can occur with Pompe disease, but corneal clouding is not a feature. ( Choice E) Niemann-Pick disease results from a deficiency of sphingomyelinase, which leads to the accumulation of sphingomyelin within phagocytes. This disease is characterized by hepatosplenomegaly and progressive neurologic deterioration, but eye findings include a cherry-red spot on the macula, not corneal clouding. Educational objective: Hurler syndrome is a mucopolysaccharidosis caused by a deficiency of alpha-L-iduronidase, which hydrolyzes dermatan and heparan sulfate. Accumulation of these substances results in the characteristic features of intellectual disability, coarse facial features, corneal clouding, and hepatosplenomegaly. Early death due to cardiac complications (eg, myocardial infarction) is expected. References • Early disease progression of Hurler syndrome. Block Time Remaining: 00:02:05 TUTOR https://t.me/USMLEWorldStep1 i Suspend O End Block — Item1 of1 QuestionW :21503 P'Mark <l Previous > Next r n L J Full Screen © Tutorial i Lab Values =* Notes Calculator Reverse Color CEA ) Text Zoom §! i Settings A (ChoiceC ) Glycogenstoragediseasescause defectivemetabolismof glycogenin the liverand/or , growthretardation, , lacticacidosis, hepatomegaly muscles. The presentationcan includehypoglycemia and/or musclefatigue/cramping. Cardiomegalycan occurwith Pompe disease, but cornealcloudingis not a feature. (Choice E ) Niemann-Pick disease resultsfrom a deficiencyof sphingomyelinase , whichleads to the accumulationof sphingomyelinwithinphagocytes. This disease is characterizedby hepatosplenomegaly and progressiveneurologicdeterioration , but eye findingsincludea cherry-red spot on the macula, not cornealclouding. Educational objective : Hurler syndromeis a mucopolysaccharidosis caused by a deficiencyof alpha-L-iduronidase, which hydrolyzesdermatanand heparan sulfate. Accumulationof these substancesresultsin the characteristic , coarse facialfeatures, cornealclouding , and hepatosplenomegaly . Early featuresof intellectualdisability death due to cardiaccomplications(eg, myocardialinfarction) is expected. References • Early diseaseprogressionof Hurler syndrome. Block Time Remaining:00:02:05 TUTOR https://t.me/USMLEWorldStep1 i Suspend O EndBlock — Item1 of1 QuestionW :21503 P'Mark <l Previous > Next r n L J Full Screen © Tutorial i Lab Values =* Notes Calculator Reverse Color CEA ) Text Zoom §! i Settings A (ChoiceC ) Glycogenstoragediseasescause defectivemetabolismof glycogenin the liverand/or , growthretardation, , lacticacidosis, hepatomegaly muscles. The presentationcan includehypoglycemia and/or musclefatigue/cramping. Cardiomegalycan occurwith Pompe disease, but cornealcloudingis not a feature. (Choice E ) Niemann-Pick disease resultsfrom a deficiencyof sphingomyelinase , whichleads to the accumulationof sphingomyelinwithinphagocytes. This disease is characterizedby hepatosplenomegaly and progressiveneurologicdeterioration , but eye findingsincludea cherry-red spot on the macula, not cornealclouding. Educational objective : Hurler syndromeis a mucopolysaccharidosis caused by a deficiencyof alpha-L-iduronidase, which hydrolyzesdermatanand heparan sulfate. Accumulationof these substancesresultsin the characteristic , coarse facialfeatures, cornealclouding , and hepatosplenomegaly . Early featuresof intellectualdisability death due to cardiaccomplications(eg, myocardialinfarction) is expected. References • Early diseaseprogressionof Hurler syndrome. Block Time Remaining:00:02:05 TUTOR https://t.me/USMLEWorldStep1 i Suspend O EndBlock — Item 1 of 1 Question W: 21503 P' Mark <l Previous > Next r n L J Full Screen © Tutorial i Lab Values =* Notes Calculator Reverse Color CEA) Text Zoom i§! Settings A ( Choice C ) Glycogen storage diseases cause defective metabolism of glycogen in the liver and/or muscles. The presentation can include hypoglycemia, lactic acidosis, hepatomegaly, growth retardation, and/or muscle fatigue/cramping. Cardiomegaly can occur with Pompe disease, but corneal clouding is not a feature. ( Choice E) Niemann-Pick disease results from a deficiency of sphingomyelinase, which leads to the accumulation of sphingomyelin within phagocytes. This disease is characterized by hepatosplenomegaly and progressive neurologic deterioration, but eye findings include a cherry-red spot on the macula, not corneal clouding. Educational objective: Hurler syndrome is a mucopolysaccharidosis caused by a deficiency of alpha-L-iduronidase, which hydrolyzes dermatan and heparan sulfate. Accumulation of these substances results in the characteristic features of intellectual disability, coarse facial features, corneal clouding, and hepatosplenomegaly. Early death due to cardiac complications (eg, myocardial infarction) is expected. References • Early disease progression of Hurler syndrome. Block Time Remaining: 00:02:05 TUTOR https://t.me/USMLEWorldStep1 i Suspend O End Block — Item 1 of 1 Question W: 21503 P' Mark <l Previous > Next rn L J Full Screen © Tutorial i Lab Values =* Notes Calculator Reverse Color CEA) Text Zoom i§! Settings A ( Choice C ) Glycogen storage diseases cause defective metabolism of glycogen in the liver and/or muscles. The presentation can include hypoglycemia, lactic acidosis, hepatomegaly, growth retardation, and/or muscle fatigue/cramping. Cardiomegaly can occur with Pompe disease, but corneal clouding is not a feature. ( Choice E) Niemann-Pick disease results from a deficiency of sphingomyelinase, which leads to the accumulation of sphingomyelin within phagocytes. This disease is characterized by hepatosplenomegaly and progressive neurologic deterioration, but eye findings include a cherry-red spot on the macula, not corneal clouding. Educational objective: Hurler syndrome is a mucopolysaccharidosis caused by a deficiency of alpha-L-iduronidase, which hydrolyzes dermatan and heparan sulfate. Accumulation of these substances results in the characteristic features of intellectual disability, coarse facial features, corneal clouding, and hepatosplenomegaly. Early death due to cardiac complications (eg, myocardial infarction) is expected. References • Early disease progression of Hurler syndrome. Block Time Remaining: 00:02:05 TUTOR https://t.me/USMLEWorldStep1 i Suspend O End Block — Item 1 of 1 Question W: 21503 P' Mark <l Previous > Next rn L J Full Screen © Tutorial i Lab Values =* Notes Calculator Reverse Color CEA) Text Zoom i§! Settings A ( Choice C ) Glycogen storage diseases cause defective metabolism of glycogen in the liver and/or muscles. The presentation can include hypoglycemia, lactic acidosis, hepatomegaly, growth retardation, and/or muscle fatigue/cramping. Cardiomegaly can occur with Pompe disease, but corneal clouding is not a feature. ( Choice E) Niemann-Pick disease results from a deficiency of sphingomyelinase, which leads to the accumulation of sphingomyelin within phagocytes. This disease is characterized by hepatosplenomegaly and progressive neurologic deterioration, but eye findings include a cherry-red spot on the macula, not corneal clouding. Educational objective: Hurler syndrome is a mucopolysaccharidosis caused by a deficiency of alpha-L-iduronidase, which hydrolyzes dermatan and heparan sulfate. Accumulation of these substances results in the characteristic features of intellectual disability, coarse facial features, corneal clouding, and hepatosplenomegaly. Early death due to cardiac complications (eg, myocardial infarction) is expected. References • Early disease progression of Hurler syndrome. Block Time Remaining: 00:02:05 TUTOR https://t.me/USMLEWorldStep1 i Suspend O End Block — Item1 of1 QuestionW :21503 P'Mark <l Previous > Next r n L J Full Screen © Tutorial i Lab Values =* Notes Calculator Reverse Color CEA ) Text Zoom §! i Settings A (ChoiceC ) Glycogen storage diseases cause defective metabolism of glycogen in the liver and/or muscles. The presentation can include hypoglycemia, lactic acidosis, hepatomegaly, growth retardation, and/or muscle fatigue/cramping. Cardiomegaly can occur with Pompe disease, but corneal clouding is not a feature. (Choice E ) Niemann-Pick disease results from a deficiency of sphingomyelinase, which leads to the accumulation of sphingomyelin within phagocytes. This disease is characterized by hepatosplenomegaly and progressive neurologic deterioration, but eye findings include a cherry-red spot on the macula, not corneal clouding. Educational objective : Hurler syndrome is a mucopolysaccharidosis caused by a deficiency of alpha-L-iduronidase, which hydrolyzes dermatan and heparan sulfate. Accumulation of these substances results in the characteristic features of intellectual disability, coarse facial features, corneal clouding, and hepatosplenomegaly. Early death due to cardiac complications (eg, myocardial infarction) is expected. References • Early disease progression of Hurler syndrome. Block Time Remaining:00:02:05 TUTOR https://t.me/USMLEWorldStep1 i Suspend O End Block — Item 1 of 1 Question W: 21503 P' Mark <l Previous > Next rn L J Full Screen © Tutorial i Lab Values =* Notes Calculator Reverse Color CEA) Text Zoom i§! Settings A ( Choice C ) Glycogen storage diseases cause defective metabolism of glycogen in the liver and/or muscles. The presentation can include hypoglycemia, lactic acidosis, hepatomegaly, growth retardation, and/or muscle fatigue/cramping. Cardiomegaly can occur with Pompe disease, but corneal clouding is not a feature. ( Choice E) Niemann-Pick disease results from a deficiency of sphingomyelinase, which leads to the accumulation of sphingomyelin within phagocytes. This disease is characterized by hepatosplenomegaly and progressive neurologic deterioration, but eye findings include a cherry-red spot on the macula, not corneal clouding. Educational objective: Hurler syndrome is a mucopolysaccharidosis caused by a deficiency of alpha-L-iduronidase, which hydrolyzes dermatan and heparan sulfate. Accumulation of these substances results in the characteristic features of intellectual disability, coarse facial features, corneal clouding, and hepatosplenomegaly. Early death due to cardiac complications (eg, myocardial infarction) is expected. References • Early disease progression of Hurler syndrome. Block Time Remaining: 00:02:05 TUTOR https://t.me/USMLEWorldStep1 i Suspend O End Block — Item 1 of 1 Question W: 21503 P' Mark <l Previous > Next rn L J Full Screen © Tutorial i Lab Values =* Notes Calculator Reverse Color CEA) Text Zoom i§! Settings A ( Choice C ) Glycogen storage diseases cause defective metabolism of glycogen in the liver and/or muscles. The presentation can include hypoglycemia, lactic acidosis, hepatomegaly, growth retardation, and/or muscle fatigue/cramping. Cardiomegaly can occur with Pompe disease, but corneal clouding is not a feature. ( Choice E) Niemann-Pick disease results from a deficiency of sphingomyelinase, which leads to the accumulation of sphingomyelin within phagocytes. This disease is characterized by hepatosplenomegaly and progressive neurologic deterioration, but eye findings include a cherry-red spot on the macula, not corneal clouding. Educational objective: Hurler syndrome is a mucopolysaccharidosis caused by a deficiency of alpha-L-iduronidase, which hydrolyzes dermatan and heparan sulfate. Accumulation of these substances results in the characteristic features of intellectual disability, coarse facial features, corneal clouding, and hepatosplenomegaly. Early death due to cardiac complications (eg, myocardial infarction) is expected. References • Early disease progression of Hurler syndrome. Block Time Remaining: 00:02:05 TUTOR https://t.me/USMLEWorldStep1 i Suspend O End Block — Item 1 of 1 Question W: 21503 P' Mark <l Previous > Next rn L J Full Screen © Tutorial i Lab Values =* Notes Calculator Reverse Color CEA) Text Zoom i§! Settings A ( Choice C ) Glycogen storage diseases cause defective metabolism of glycogen in the liver and/or muscles. The presentation can include hypoglycemia, lactic acidosis, hepatomegaly, growth retardation, and/or muscle fatigue/cramping. Cardiomegaly can occur with Pompe disease, but corneal clouding is not a feature. ( Choice E) Niemann-Pick disease results from a deficiency of sphingomyelinase, which leads to the accumulation of sphingomyelin within phagocytes. This disease is characterized by hepatosplenomegaly and progressive neurologic deterioration, but eye findings include a cherry-red spot on the macula, not corneal clouding. Educational objective: Hurler syndrome is a mucopolysaccharidosis caused by a deficiency of alpha-L-iduronidase, which hydrolyzes dermatan and heparan sulfate. Accumulation of these substances results in the characteristic features of intellectual disability, coarse facial features, corneal clouding, and hepatosplenomegaly. Early death due to cardiac complications (eg, myocardial infarction) is expected. References • Early disease progression of Hurler syndrome. Block Time Remaining: 00:02:05 TUTOR https://t.me/USMLEWorldStep1 i Suspend O End Block — Item 1 of 1 Question W: 21503 P' Mark <l Previous > Next rn L J Full Screen © Tutorial i Lab Values =* Notes Calculator Reverse Color CEA) Text Zoom i§! Settings A ( Choice C ) Glycogen storage diseases cause defective metabolism of glycogen in the liver and/or muscles. The presentation can include hypoglycemia, lactic acidosis, hepatomegaly, growth retardation, and/or muscle fatigue/cramping. Cardiomegaly can occur with Pompe disease, but corneal clouding is not a feature. ( Choice E) Niemann-Pick disease results from a deficiency of sphingomyelinase, which leads to the accumulation of sphingomyelin within phagocytes. This disease is characterized by hepatosplenomegaly and progressive neurologic deterioration, but eye findings include a cherry-red spot on the macula, not corneal clouding. Educational objective: Hurler syndrome is a mucopolysaccharidosis caused by a deficiency of alpha-L-iduronidase, which hydrolyzes dermatan and heparan sulfate. Accumulation of these substances results in the characteristic features of intellectual disability, coarse facial features, corneal clouding, and hepatosplenomegaly. Early death due to cardiac complications (eg, myocardial infarction) is expected. References • Early disease progression of Hurler syndrome. Block Time Remaining: 00:02:05 TUTOR https://t.me/USMLEWorldStep1 i Suspend O End Block — Item1 of1 QuestionW :21503 P'Mark <l Previous > Next r n L J Full Screen © Tutorial i Lab Values =* Notes Calculator Reverse Color CEA ) Text Zoom §! i Settings A (ChoiceC ) Glycogen storage diseases cause defective metabolism of glycogen in the liver and/or muscles. The presentation can include hypoglycemia, lactic acidosis, hepatomegaly, growth retardation, and/or muscle fatigue/cramping. Cardiomegaly can occur with Pompe disease, but corneal clouding is not a feature. (Choice E ) Niemann-Pick disease results from a deficiency of sphingomyelinase, which leads to the accumulation of sphingomyelin within phagocytes. This disease is characterized by hepatosplenomegaly and progressive neurologic deterioration, but eye findings include a cherry-red spot on the macula, not corneal clouding. Educational objective : Hurler syndrome is a mucopolysaccharidosis caused by a deficiency of alpha-L-iduronidase, which hydrolyzes dermatan and heparan sulfate. Accumulation of these substances results in the characteristic features of intellectual disability, coarse facial features, corneal clouding, and hepatosplenomegaly. Early death due to cardiac complications (eg, myocardial infarction) is expected. References • Early disease progression of Hurler syndrome. Block Time Remaining:00:02:05 TUTOR https://t.me/USMLEWorldStep1 i Suspend O End Block — Item 1 of 1 Question W: 21503 P' Mark <l Previous > Next rn L J Full Screen © Tutorial i Lab Values =* Notes Calculator Reverse Color CEA) Text Zoom i§! Settings A ( Choice C ) Glycogen storage diseases cause defective metabolism of glycogen in the liver and/or muscles. The presentation can include hypoglycemia, lactic acidosis, hepatomegaly, growth retardation, and/or muscle fatigue/cramping. Cardiomegaly can occur with Pompe disease, but corneal clouding is not a feature. ( Choice E) Niemann-Pick disease results from a deficiency of sphingomyelinase, which leads to the accumulation of sphingomyelin within phagocytes. This disease is characterized by hepatosplenomegaly and progressive neurologic deterioration, but eye findings include a cherry-red spot on the macula, not corneal clouding. Educational objective: Hurler syndrome is a mucopolysaccharidosis caused by a deficiency of alpha-L-iduronidase, which hydrolyzes dermatan and heparan sulfate. Accumulation of these substances results in the characteristic features of intellectual disability, coarse facial features, corneal clouding, and hepatosplenomegaly. Early death due to cardiac complications (eg, myocardial infarction) is expected. References • Early disease progression of Hurler syndrome. Block Time Remaining: 00:02:05 TUTOR https://t.me/USMLEWorldStep1 i Suspend O End Block — Item 1 of 1 Question W: 21503 P' Mark <l Previous > Next rn L J Full Screen © Tutorial i Lab Values =* Notes Calculator Reverse Color CEA) Text Zoom i§! Settings A ( Choice C ) Glycogen storage diseases cause defective metabolism of glycogen in the liver and/or muscles. The presentation can include hypoglycemia, lactic acidosis, hepatomegaly, growth retardation, and/or muscle fatigue/cramping. Cardiomegaly can occur with Pompe disease, but corneal clouding is not a feature. ( Choice E) Niemann-Pick disease results from a deficiency of sphingomyelinase, which leads to the accumulation of sphingomyelin within phagocytes. This disease is characterized by hepatosplenomegaly and progressive neurologic deterioration, but eye findings include a cherry-red spot on the macula, not corneal clouding. Educational objective: Hurler syndrome is a mucopolysaccharidosis caused by a deficiency of alpha-L-iduronidase, which hydrolyzes dermatan and heparan sulfate. Accumulation of these substances results in the characteristic features of intellectual disability, coarse facial features, corneal clouding, and hepatosplenomegaly. Early death due to cardiac complications (eg, myocardial infarction) is expected. References • Early disease progression of Hurler syndrome. Block Time Remaining: 00:02:05 TUTOR https://t.me/USMLEWorldStep1 i Suspend O End Block — Item 1 of 1 Question W: 21503 P' Mark <l Previous > Next rn L J Full Screen © Tutorial i Lab Values =* Notes Calculator Reverse Color CEA) Text Zoom i§! Settings A ( Choice C ) Glycogen storage diseases cause defective metabolism of glycogen in the liver and/or muscles. The presentation can include hypoglycemia, lactic acidosis, hepatomegaly, growth retardation, and/or muscle fatigue/cramping. Cardiomegaly can occur with Pompe disease, but corneal clouding is not a feature. ( Choice E) Niemann-Pick disease results from a deficiency of sphingomyelinase, which leads to the accumulation of sphingomyelin within phagocytes. This disease is characterized by hepatosplenomegaly and progressive neurologic deterioration, but eye findings include a cherry-red spot on the macula, not corneal clouding. Educational objective: Hurler syndrome is a mucopolysaccharidosis caused by a deficiency of alpha-L-iduronidase, which hydrolyzes dermatan and heparan sulfate. Accumulation of these substances results in the characteristic features of intellectual disability, coarse facial features, corneal clouding, and hepatosplenomegaly. Early death due to cardiac complications (eg, myocardial infarction) is expected. References • Early disease progression of Hurler syndrome. Block Time Remaining: 00:02:05 TUTOR https://t.me/USMLEWorldStep1 i Suspend O End Block — Item 1 of 1 Question W: 21503 P' Mark <l Previous > Next rn L J Full Screen © Tutorial i Lab Values =* Notes Calculator Reverse Color CEA) Text Zoom i§! Settings A ( Choice C ) Glycogen storage diseases cause defective metabolism of glycogen in the liver and/or muscles. The presentation can include hypoglycemia, lactic acidosis, hepatomegaly, growth retardation, and/or muscle fatigue/cramping. Cardiomegaly can occur with Pompe disease, but corneal clouding is not a feature. ( Choice E) Niemann-Pick disease results from a deficiency of sphingomyelinase, which leads to the accumulation of sphingomyelin within phagocytes. This disease is characterized by hepatosplenomegaly and progressive neurologic deterioration, but eye findings include a cherry-red spot on the macula, not corneal clouding. Educational objective: Hurler syndrome is a mucopolysaccharidosis caused by a deficiency of alpha-L-iduronidase, which hydrolyzes dermatan and heparan sulfate. Accumulation of these substances results in the characteristic features of intellectual disability, coarse facial features, corneal clouding, and hepatosplenomegaly. Early death due to cardiac complications (eg, myocardial infarction) is expected. References • Early disease progression of Hurler syndrome. Block Time Remaining: 00:02:05 TUTOR https://t.me/USMLEWorldStep1 i Suspend O End Block — Item1 of1 QuestionW :21503 P'Mark <l Previous > Next r n L J Full Screen © Tutorial i Lab Values =* Notes Calculator Reverse Color CEA ) Text Zoom §! i Settings A (ChoiceC ) Glycogenstoragediseasescause defectivemetabolismof glycogenin the liverand/or , growthretardation, , lacticacidosis, hepatomegaly muscles. The presentationcan includehypoglycemia and/or musclefatigue/cramping. Cardiomegalycan occurwith Pompe disease, but cornealcloudingis not a feature. (Choice E ) Niemann-Pick disease resultsfrom a deficiencyof sphingomyelinase , whichleads to the accumulationof sphingomyelinwithinphagocytes. This disease is characterizedby hepatosplenomegaly and progressiveneurologicdeterioration , but eye findingsincludea cherry-red spot on the macula, not cornealclouding. Educational objective : Hurler syndromeis a mucopolysaccharidosis caused by a deficiencyof alpha-L-iduronidase, which hydrolyzesdermatanand heparan sulfate. Accumulationof these substancesresultsin the characteristic , coarse facialfeatures, cornealclouding , and hepatosplenomegaly . Early featuresof intellectualdisability death due to cardiaccomplications(eg, myocardialinfarction) is expected. References • Early diseaseprogressionof Hurler syndrome. Block Time Remaining:00:02:05 TUTOR https://t.me/USMLEWorldStep1 i Suspend O EndBlock — Item 1 of 1 Question W: 21503 P' Mark <l Previous > Next r n L J Full Screen © Tutorial i Lab Values =* Notes Calculator Reverse Color CEA ) Text Zoom i§! Settings A ( Choice C ) Glycogenstoragediseasescause defectivemetabolismof glycogenin the liverand/or , growthretardation, , lacticacidosis, hepatomegaly muscles. The presentationcan includehypoglycemia and/or musclefatigue/cramping. Cardiomegalycan occurwith Pompe disease, but cornealcloudingis not a feature. ( Choice E) Niemann-Pick disease resultsfrom a deficiencyof sphingomyelinase , whichleads to the accumulationof sphingomyelinwithinphagocytes. This disease is characterizedby hepatosplenomegaly and progressiveneurologicdeterioration , but eye findingsincludea cherry-red spot on the macula, not cornealclouding. Educational objective : Hurler syndromeis a mucopolysaccharidosis caused by a deficiencyof alpha-L-iduronidase, which hydrolyzesdermatanand heparan sulfate. Accumulationof these substancesresultsin the characteristic , coarse facialfeatures, cornealclouding , and hepatosplenomegaly . Early featuresof intellectualdisability death due to cardiaccomplications(eg, myocardialinfarction) is expected. References • Early diseaseprogressionof Hurler syndrome. Block Time Remaining : 00:02: 05 TUTOR https://t.me/USMLEWorldStep1 i Suspend O EndBlock — Item 1 of 1 Question W: 21503 P' Mark <l Previous > Next rn L J Full Screen © Tutorial i Lab Values =* Notes Calculator Reverse Color CEA) Text Zoom i§! Settings A ( Choice C ) Glycogen storage diseases cause defective metabolism of glycogen in the liver and/or muscles. The presentation can include hypoglycemia, lactic acidosis, hepatomegaly, growth retardation, and/or muscle fatigue/cramping. Cardiomegaly can occur with Pompe disease, but corneal clouding is not a feature. ( Choice E) Niemann-Pick disease results from a deficiency of sphingomyelinase, which leads to the accumulation of sphingomyelin within phagocytes. This disease is characterized by hepatosplenomegaly and progressive neurologic deterioration, but eye findings include a cherry-red spot on the macula, not corneal clouding. Educational objective: Hurler syndrome is a mucopolysaccharidosis caused by a deficiency of alpha-L-iduronidase, which hydrolyzes dermatan and heparan sulfate. Accumulation of these substances results in the characteristic features of intellectual disability, coarse facial features, corneal clouding, and hepatosplenomegaly. Early death due to cardiac complications (eg, myocardial infarction) is expected. References • Early disease progression of Hurler syndrome. Block Time Remaining: 00:02:05 TUTOR https://t.me/USMLEWorldStep1 i Suspend O End Block — Item 1 of 1 Question W: 21503 P' Mark <l Previous > Next rn L J Full Screen © Tutorial i Lab Values =* Notes Calculator Reverse Color CEA) Text Zoom i§! Settings A ( Choice C ) Glycogen storage diseases cause defective metabolism of glycogen in the liver and/or muscles. The presentation can include hypoglycemia, lactic acidosis, hepatomegaly, growth retardation, and/or muscle fatigue/cramping. Cardiomegaly can occur with Pompe disease, but corneal clouding is not a feature. ( Choice E) Niemann-Pick disease results from a deficiency of sphingomyelinase, which leads to the accumulation of sphingomyelin within phagocytes. This disease is characterized by hepatosplenomegaly and progressive neurologic deterioration, but eye findings include a cherry-red spot on the macula, not corneal clouding. Educational objective: Hurler syndrome is a mucopolysaccharidosis caused by a deficiency of alpha-L-iduronidase, which hydrolyzes dermatan and heparan sulfate. Accumulation of these substances results in the characteristic features of intellectual disability, coarse facial features, corneal clouding, and hepatosplenomegaly. Early death due to cardiac complications (eg, myocardial infarction) is expected. References • Early disease progression of Hurler syndrome. Block Time Remaining: 00:02:05 TUTOR https://t.me/USMLEWorldStep1 i Suspend O End Block — Item1 of1 QuestionW :21503 P'Mark <l Previous > Next r n L J Full Screen © Tutorial i Lab Values =* Notes Calculator Reverse Color CEA ) Text Zoom §! i Settings A (ChoiceC ) Glycogen storage diseases cause defective metabolism of glycogen in the liver and/or muscles. The presentation can include hypoglycemia, lactic acidosis, hepatomegaly, growth retardation, and/or muscle fatigue/cramping. Cardiomegaly can occur with Pompe disease, but corneal clouding is not a feature. (Choice E ) Niemann-Pick disease results from a deficiency of sphingomyelinase, which leads to the accumulation of sphingomyelin within phagocytes. This disease is characterized by hepatosplenomegaly and progressive neurologic deterioration, but eye findings include a cherry-red spot on the macula, not corneal clouding. Educational objective : Hurler syndrome is a mucopolysaccharidosis caused by a deficiency of alpha-L-iduronidase, which hydrolyzes dermatan and heparan sulfate. Accumulation of these substances results in the characteristic features of intellectual disability, coarse facial features, corneal clouding, and hepatosplenomegaly. Early death due to cardiac complications (eg, myocardial infarction) is expected. References • Early disease progression of Hurler syndrome. Block Time Remaining:00:02:05 TUTOR https://t.me/USMLEWorldStep1 i Suspend O End Block — Item 1 of 1 Question W: 21503 P' Mark <l Previous > Next r n L J Full Screen © Tutorial i Lab Values =* Notes Calculator Reverse Color CEA ) Text Zoom i§! Settings A ( Choice C ) Glycogenstoragediseasescause defectivemetabolismof glycogenin the liverand/or , growthretardation, , lacticacidosis, hepatomegaly muscles. The presentationcan includehypoglycemia and/or musclefatigue/cramping. Cardiomegalycan occurwith Pompe disease, but cornealcloudingis not a feature. ( Choice E) Niemann-Pick disease resultsfrom a deficiencyof sphingomyelinase , whichleads to the accumulationof sphingomyelinwithinphagocytes. This disease is characterizedby hepatosplenomegaly and progressiveneurologicdeterioration , but eye findingsincludea cherry-red spot on the macula, not cornealclouding. Educational objective : Hurler syndromeis a mucopolysaccharidosis caused by a deficiencyof alpha-L-iduronidase, which hydrolyzesdermatanand heparan sulfate. Accumulationof these substancesresultsin the characteristic , coarse facialfeatures, cornealclouding , and hepatosplenomegaly . Early featuresof intellectualdisability death due to cardiaccomplications(eg, myocardialinfarction) is expected. References • Early diseaseprogressionof Hurler syndrome. Block Time Remaining : 00:02: 05 TUTOR https://t.me/USMLEWorldStep1 i Suspend O EndBlock — Item 1 of 1 Question W: 21503 P' Mark <l Previous > Next rn L J Full Screen © Tutorial i Lab Values =* Notes Calculator Reverse Color CEA) Text Zoom i§! Settings A ( Choice C ) Glycogen storage diseases cause defective metabolism of glycogen in the liver and/or muscles. The presentation can include hypoglycemia, lactic acidosis, hepatomegaly, growth retardation, and/or muscle fatigue/cramping. Cardiomegaly can occur with Pompe disease, but corneal clouding is not a feature. ( Choice E) Niemann-Pick disease results from a deficiency of sphingomyelinase, which leads to the accumulation of sphingomyelin within phagocytes. This disease is characterized by hepatosplenomegaly and progressive neurologic deterioration, but eye findings include a cherry-red spot on the macula, not corneal clouding. Educational objective: Hurler syndrome is a mucopolysaccharidosis caused by a deficiency of alpha-L-iduronidase, which hydrolyzes dermatan and heparan sulfate. Accumulation of these substances results in the characteristic features of intellectual disability, coarse facial features, corneal clouding, and hepatosplenomegaly. Early death due to cardiac complications (eg, myocardial infarction) is expected. References • Early disease progression of Hurler syndrome. Block Time Remaining: 00:02:05 TUTOR https://t.me/USMLEWorldStep1 i Suspend O End Block — Item 1 of 1 Question W: 21503 P' Mark <l Previous > Next r n L J Full Screen © Tutorial i Lab Values =* Notes Calculator Reverse Color CEA ) Text Zoom i§! Settings A ( Choice C ) Glycogenstoragediseasescause defectivemetabolismof glycogenin the liverand/or , growthretardation, , lacticacidosis, hepatomegaly muscles. The presentationcan includehypoglycemia and/or musclefatigue/cramping. Cardiomegalycan occurwith Pompe disease, but cornealcloudingis not a feature. ( Choice E) Niemann-Pick disease resultsfrom a deficiencyof sphingomyelinase , whichleads to the accumulationof sphingomyelinwithinphagocytes. This disease is characterizedby hepatosplenomegaly and progressiveneurologicdeterioration , but eye findingsincludea cherry-red spot on the macula, not cornealclouding. Educational objective : Hurler syndromeis a mucopolysaccharidosis caused by a deficiencyof alpha-L-iduronidase, which hydrolyzesdermatanand heparan sulfate. Accumulationof these substancesresultsin the characteristic , coarse facialfeatures, cornealclouding , and hepatosplenomegaly . Early featuresof intellectualdisability death due to cardiaccomplications(eg, myocardialinfarction) is expected. References • Early diseaseprogressionof Hurler syndrome. Block Time Remaining : 00:02: 05 TUTOR https://t.me/USMLEWorldStep1 i Suspend O EndBlock — Item 1 of 1 Question W: 21503 P' Mark <l Previous > Next rn L J Full Screen © Tutorial i Lab Values =* Notes Calculator Reverse Color CEA) Text Zoom i§! Settings A ( Choice C ) Glycogen storage diseases cause defective metabolism of glycogen in the liver and/or muscles. The presentation can include hypoglycemia, lactic acidosis, hepatomegaly, growth retardation, and/or muscle fatigue/cramping. Cardiomegaly can occur with Pompe disease, but corneal clouding is not a feature. ( Choice E) Niemann-Pick disease results from a deficiency of sphingomyelinase, which leads to the accumulation of sphingomyelin within phagocytes. This disease is characterized by hepatosplenomegaly and progressive neurologic deterioration, but eye findings include a cherry-red spot on the macula, not corneal clouding. Educational objective: Hurler syndrome is a mucopolysaccharidosis caused by a deficiency of alpha-L-iduronidase, which hydrolyzes dermatan and heparan sulfate. Accumulation of these substances results in the characteristic features of intellectual disability, coarse facial features, corneal clouding, and hepatosplenomegaly. Early death due to cardiac complications (eg, myocardial infarction) is expected. References • Early disease progression of Hurler syndrome. Block Time Remaining: 00:02:05 TUTOR https://t.me/USMLEWorldStep1 i Suspend O End Block — Item 1 of 1 Question W: 21503 P' Mark <l Previous > Next rn L J Full Screen © Tutorial i Lab Values =* Notes Calculator Reverse Color CEA) Text Zoom i§! Settings A ( Choice C ) Glycogen storage diseases cause defective metabolism of glycogen in the liver and/or muscles. The presentation can include hypoglycemia, lactic acidosis, hepatomegaly, growth retardation, and/or muscle fatigue/cramping. Cardiomegaly can occur with Pompe disease, but corneal clouding is not a feature. ( Choice E) Niemann-Pick disease results from a deficiency of sphingomyelinase, which leads to the accumulation of sphingomyelin within phagocytes. This disease is characterized by hepatosplenomegaly and progressive neurologic deterioration, but eye findings include a cherry-red spot on the macula, not corneal clouding. Educational objective: Hurler syndrome is a mucopolysaccharidosis caused by a deficiency of alpha-L-iduronidase, which hydrolyzes dermatan and heparan sulfate. Accumulation of these substances results in the characteristic features of intellectual disability, coarse facial features, corneal clouding, and hepatosplenomegaly. Early death due to cardiac complications (eg, myocardial infarction) is expected. References • Early disease progression of Hurler syndrome. Block Time Remaining: 00:02:05 TUTOR https://t.me/USMLEWorldStep1 i Suspend O End Block — Item 1 of 1 Question W: 21503 P' Mark <l Previous > Next rn L J Full Screen © Tutorial i Lab Values =* Notes Calculator Reverse Color CEA) Text Zoom i§! Settings A ( Choice C ) Glycogen storage diseases cause defective metabolism of glycogen in the liver and/or muscles. The presentation can include hypoglycemia, lactic acidosis, hepatomegaly, growth retardation, and/or muscle fatigue/cramping. Cardiomegaly can occur with Pompe disease, but corneal clouding is not a feature. ( Choice E) Niemann-Pick disease results from a deficiency of sphingomyelinase, which leads to the accumulation of sphingomyelin within phagocytes. This disease is characterized by hepatosplenomegaly and progressive neurologic deterioration, but eye findings include a cherry-red spot on the macula, not corneal clouding. Educational objective: Hurler syndrome is a mucopolysaccharidosis caused by a deficiency of alpha-L-iduronidase, which hydrolyzes dermatan and heparan sulfate. Accumulation of these substances results in the characteristic features of intellectual disability, coarse facial features, corneal clouding, and hepatosplenomegaly. Early death due to cardiac complications (eg, myocardial infarction) is expected. References • Early disease progression of Hurler syndrome. Block Time Remaining: 00:02:05 TUTOR https://t.me/USMLEWorldStep1 i Suspend O End Block — Item 1 of 1 Question W: 21503 P' Mark <l Previous > Next rn L J Full Screen © Tutorial i Lab Values =* Notes Calculator Reverse Color CEA) Text Zoom i§! Settings A ( Choice C ) Glycogen storage diseases cause defective metabolism of glycogen in the liver and/or muscles. The presentation can include hypoglycemia, lactic acidosis, hepatomegaly, growth retardation, and/or muscle fatigue/cramping. Cardiomegaly can occur with Pompe disease, but corneal clouding is not a feature. ( Choice E) Niemann-Pick disease results from a deficiency of sphingomyelinase, which leads to the accumulation of sphingomyelin within phagocytes. This disease is characterized by hepatosplenomegaly and progressive neurologic deterioration, but eye findings include a cherry-red spot on the macula, not corneal clouding. Educational objective: Hurler syndrome is a mucopolysaccharidosis caused by a deficiency of alpha-L-iduronidase, which hydrolyzes dermatan and heparan sulfate. Accumulation of these substances results in the characteristic features of intellectual disability, coarse facial features, corneal clouding, and hepatosplenomegaly. Early death due to cardiac complications (eg, myocardial infarction) is expected. References • Early disease progression of Hurler syndrome. Block Time Remaining: 00:02:05 TUTOR https://t.me/USMLEWorldStep1 i Suspend O End Block — Item1 of1 QuestionW :21503 P'Mark <l Previous > Next r n L J Full Screen © Tutorial i Lab Values =* Notes Calculator Reverse Color CEA ) Text Zoom §! i Settings A (ChoiceC ) Glycogenstoragediseasescause defectivemetabolismof glycogenin the liverand/or , growthretardation, , lacticacidosis, hepatomegaly muscles. The presentationcan includehypoglycemia and/or musclefatigue/cramping. Cardiomegalycan occurwith Pompe disease, but cornealcloudingis not a feature. (Choice E ) Niemann-Pick disease resultsfrom a deficiencyof sphingomyelinase , whichleads to the accumulationof sphingomyelinwithinphagocytes. This disease is characterizedby hepatosplenomegaly and progressiveneurologicdeterioration , but eye findingsincludea cherry-red spot on the macula, not cornealclouding. Educational objective : Hurler syndromeis a mucopolysaccharidosis caused by a deficiencyof alpha-L-iduronidase, which hydrolyzesdermatanand heparan sulfate. Accumulationof these substancesresultsin the characteristic , coarse facialfeatures, cornealclouding , and hepatosplenomegaly . Early featuresof intellectualdisability death due to cardiaccomplications(eg, myocardialinfarction) is expected. References • Early diseaseprogressionof Hurler syndrome. Block Time Remaining:00:02:05 TUTOR https://t.me/USMLEWorldStep1 i Suspend O EndBlock — Item1 of1 QuestionW :21503 P'Mark <l Previous > Next r n L J Full Screen © Tutorial i Lab Values =* Notes Calculator Reverse Color CEA ) Text Zoom §! i Settings A (ChoiceC ) Glycogen storage diseases cause defective metabolism of glycogen in the liver and/or muscles. The presentation can include hypoglycemia, lactic acidosis, hepatomegaly, growth retardation, and/or muscle fatigue/cramping. Cardiomegaly can occur with Pompe disease, but corneal clouding is not a feature. (Choice E ) Niemann-Pick disease results from a deficiency of sphingomyelinase, which leads to the accumulation of sphingomyelin within phagocytes. This disease is characterized by hepatosplenomegaly and progressive neurologic deterioration, but eye findings include a cherry-red spot on the macula, not corneal clouding. Educational objective : Hurler syndrome is a mucopolysaccharidosis caused by a deficiency of alpha-L-iduronidase, which hydrolyzes dermatan and heparan sulfate. Accumulation of these substances results in the characteristic features of intellectual disability, coarse facial features, corneal clouding, and hepatosplenomegaly. Early death due to cardiac complications (eg, myocardial infarction) is expected. References • Early disease progression of Hurler syndrome. Block Time Remaining:00:02:05 TUTOR https://t.me/USMLEWorldStep1 i Suspend O End Block — Item 1 of 1 Question W: 21503 P' Mark <l Previous > Next r n L J Full Screen © Tutorial i Lab Values =* Notes Calculator Reverse Color CEA ) Text Zoom i§! Settings A ( Choice C ) Glycogenstoragediseasescause defectivemetabolismof glycogenin the liverand/or , growthretardation, , lacticacidosis, hepatomegaly muscles. The presentationcan includehypoglycemia and/or musclefatigue/cramping. Cardiomegalycan occurwith Pompe disease, but cornealcloudingis not a feature. ( Choice E) Niemann-Pick disease resultsfrom a deficiencyof sphingomyelinase , whichleads to the accumulationof sphingomyelinwithinphagocytes. This disease is characterizedby hepatosplenomegaly and progressiveneurologicdeterioration , but eye findingsincludea cherry-red spot on the macula, not cornealclouding. Educational objective : Hurler syndromeis a mucopolysaccharidosis caused by a deficiencyof alpha-L-iduronidase, which hydrolyzesdermatanand heparan sulfate. Accumulationof these substancesresultsin the characteristic , coarse facialfeatures, cornealclouding , and hepatosplenomegaly . Early featuresof intellectualdisability death due to cardiaccomplications(eg, myocardialinfarction) is expected. References • Early diseaseprogressionof Hurler syndrome. Block Time Remaining : 00:02: 05 TUTOR https://t.me/USMLEWorldStep1 i Suspend O EndBlock — Item 1 of 1 Question W: 21503 P' Mark <l Previous > Next r n L J Full Screen © Tutorial i Lab Values =* Notes Calculator Reverse Color CEA) Text Zoom i§! Settings A ( Choice C ) Glycogen storage diseases cause defective metabolism of glycogen in the liver and /or muscles . The presentation can include hypoglycemia , lactic acidosis , hepatomegaly , growth retardation , and /or muscle fatigue /cramping . Cardiomegaly can occur with Pompe disease , but corneal clouding is not a feature . ( Choice E) Niemann -Pick disease results from a deficiency of sphingomyelinase , which leads to the accumulation of sphingomyelin within phagocytes . This disease is characterized by hepatosplenomegaly and progressive neurologic deterioration , but eye findings include a cherry -red spot on the macula , not corneal clouding . Educational objective: Hurler syndrome is a mucopolysaccharidosis caused by a deficiency of alpha -L-iduronidase , which hydrolyzes dermatan and heparan sulfate . Accumulation of these substances results in the characteristic features of intellectual disability, coarse facial features , corneal clouding , and hepatosplenomegaly . Early death due to cardiac complications (eg , myocardial infarction ) is expected . References • Early disease progression of Hurler syndrome Block Time Remaining: 00:02:05 TUTOR . https ://t.me /USMLEWorldStep 1 i Suspend O End Block — Item1 of1 QuestionW :21503 P'Mark <l Previous > Next r n L J Full Screen © Tutorial i Lab Values =* Notes Calculator Reverse Color CEA ) Text Zoom §! i Settings A (ChoiceC ) Glycogenstoragediseasescause defectivemetabolismof glycogenin the liverand/or , growthretardation, , lacticacidosis, hepatomegaly muscles. The presentationcan includehypoglycemia and/or musclefatigue/cramping. Cardiomegalycan occurwith Pompe disease, but cornealcloudingis not a feature. (Choice E ) Niemann-Pick disease resultsfrom a deficiencyof sphingomyelinase , whichleads to the accumulationof sphingomyelinwithinphagocytes. This disease is characterizedby hepatosplenomegaly and progressiveneurologicdeterioration , but eye findingsincludea cherry-red spot on the macula, not cornealclouding. Educational objective : Hurler syndromeis a mucopolysaccharidosis caused by a deficiencyof alpha-L-iduronidase, which hydrolyzesdermatanand heparan sulfate. Accumulationof these substancesresultsin the characteristic , coarse facialfeatures, cornealclouding , and hepatosplenomegaly . Early featuresof intellectualdisability death due to cardiaccomplications(eg, myocardialinfarction) is expected. References • Early diseaseprogressionof Hurler syndrome. Block Time Remaining:00:02:05 TUTOR https://t.me/USMLEWorldStep1 i Suspend O EndBlock — Item1 of1 QuestionW :21503 P'Mark <l Previous > Next r n L J Full Screen © Tutorial i Lab Values =* Notes Calculator Reverse Color CEA ) Text Zoom §! i Settings A (ChoiceC ) Glycogenstoragediseasescause defectivemetabolismof glycogenin the liverand/or , growthretardation, , lacticacidosis, hepatomegaly muscles. The presentationcan includehypoglycemia and/or musclefatigue/cramping. Cardiomegalycan occurwith Pompe disease, but cornealcloudingis not a feature. (Choice E ) Niemann-Pick disease resultsfrom a deficiencyof sphingomyelinase , whichleads to the accumulationof sphingomyelinwithinphagocytes. This disease is characterizedby hepatosplenomegaly and progressiveneurologicdeterioration , but eye findingsincludea cherry-red spot on the macula, not cornealclouding. Educational objective : Hurler syndromeis a mucopolysaccharidosis caused by a deficiencyof alpha-L-iduronidase, which hydrolyzesdermatanand heparan sulfate. Accumulationof these substancesresultsin the characteristic , coarse facialfeatures, cornealclouding , and hepatosplenomegaly . Early featuresof intellectualdisability death due to cardiaccomplications(eg, myocardialinfarction) is expected. References • Early diseaseprogressionof Hurler syndrome. Block Time Remaining:00:02:05 TUTOR https://t.me/USMLEWorldStep1 i Suspend O EndBlock — Item1 of1 QuestionW :21503 P'Mark <l Previous > Next r n L J Full Screen © Tutorial i Lab Values =* Notes Calculator Reverse Color CEA ) Text Zoom §! i Settings A (ChoiceC ) Glycogen storage diseases cause defective metabolism of glycogen in the liver and/or muscles. The presentation can include hypoglycemia, lactic acidosis, hepatomegaly, growth retardation, and/or muscle fatigue/cramping. Cardiomegaly can occur with Pompe disease, but corneal clouding is not a feature. (Choice E ) Niemann-Pick disease results from a deficiency of sphingomyelinase, which leads to the accumulation of sphingomyelin within phagocytes. This disease is characterized by hepatosplenomegaly and progressive neurologic deterioration, but eye findings include a cherry-red spot on the macula, not corneal clouding. Educational objective : Hurler syndrome is a mucopolysaccharidosis caused by a deficiency of alpha-L-iduronidase, which hydrolyzes dermatan and heparan sulfate. Accumulation of these substances results in the characteristic features of intellectual disability, coarse facial features, corneal clouding, and hepatosplenomegaly. Early death due to cardiac complications (eg, myocardial infarction) is expected. References • Early disease progression of Hurler syndrome. Block Time Remaining:00:02:05 TUTOR https://t.me/USMLEWorldStep1 i Suspend O End Block — Item 1 of 1 Question W: 21503 P' Mark <l Previous > Next rn L J Full Screen © Tutorial i Lab Values =* Notes Calculator Reverse Color CEA) Text Zoom i§! Settings A ( Choice C ) Glycogen storage diseases cause defective metabolism of glycogen in the liver and/or muscles. The presentation can include hypoglycemia, lactic acidosis, hepatomegaly, growth retardation, and/or muscle fatigue/cramping. Cardiomegaly can occur with Pompe disease, but corneal clouding is not a feature. ( Choice E) Niemann-Pick disease results from a deficiency of sphingomyelinase, which leads to the accumulation of sphingomyelin within phagocytes. This disease is characterized by hepatosplenomegaly and progressive neurologic deterioration, but eye findings include a cherry-red spot on the macula, not corneal clouding. Educational objective: Hurler syndrome is a mucopolysaccharidosis caused by a deficiency of alpha-L-iduronidase, which hydrolyzes dermatan and heparan sulfate. Accumulation of these substances results in the characteristic features of intellectual disability, coarse facial features, corneal clouding, and hepatosplenomegaly. Early death due to cardiac complications (eg, myocardial infarction) is expected. References • Early disease progression of Hurler syndrome. Block Time Remaining: 00:02:05 TUTOR https://t.me/USMLEWorldStep1 i Suspend O End Block — Item 1 of 1 Question W: 21503 P' Mark <l Previous > Next rn L J Full Screen © Tutorial i Lab Values =* Notes Calculator Reverse Color CEA) Text Zoom i§! Settings A ( Choice C ) Glycogen storage diseases cause defective metabolism of glycogen in the liver and/or muscles. The presentation can include hypoglycemia, lactic acidosis, hepatomegaly, growth retardation, and/or muscle fatigue/cramping. Cardiomegaly can occur with Pompe disease, but corneal clouding is not a feature. ( Choice E) Niemann-Pick disease results from a deficiency of sphingomyelinase, which leads to the accumulation of sphingomyelin within phagocytes. This disease is characterized by hepatosplenomegaly and progressive neurologic deterioration, but eye findings include a cherry-red spot on the macula, not corneal clouding. Educational objective: Hurler syndrome is a mucopolysaccharidosis caused by a deficiency of alpha-L-iduronidase, which hydrolyzes dermatan and heparan sulfate. Accumulation of these substances results in the characteristic features of intellectual disability, coarse facial features, corneal clouding, and hepatosplenomegaly. Early death due to cardiac complications (eg, myocardial infarction) is expected. References • Early disease progression of Hurler syndrome. Block Time Remaining: 00:02:05 TUTOR https://t.me/USMLEWorldStep1 i Suspend O End Block — Item 1 of 1 Question W: 21503 P' Mark <l Previous > Next rn L J Full Screen © Tutorial i Lab Values =* Notes Calculator Reverse Color CEA) Text Zoom i§! Settings A ( Choice C ) Glycogen storage diseases cause defective metabolism of glycogen in the liver and/or muscles. The presentation can include hypoglycemia, lactic acidosis, hepatomegaly, growth retardation, and/or muscle fatigue/cramping. Cardiomegaly can occur with Pompe disease, but corneal clouding is not a feature. ( Choice E) Niemann-Pick disease results from a deficiency of sphingomyelinase, which leads to the accumulation of sphingomyelin within phagocytes. This disease is characterized by hepatosplenomegaly and progressive neurologic deterioration, but eye findings include a cherry-red spot on the macula, not corneal clouding. Educational objective: Hurler syndrome is a mucopolysaccharidosis caused by a deficiency of alpha-L-iduronidase, which hydrolyzes dermatan and heparan sulfate. Accumulation of these substances results in the characteristic features of intellectual disability, coarse facial features, corneal clouding, and hepatosplenomegaly. Early death due to cardiac complications (eg, myocardial infarction) is expected. References • Early disease progression of Hurler syndrome. Block Time Remaining: 00:02:05 TUTOR https://t.me/USMLEWorldStep1 i Suspend O End Block — Item1 of1 QuestionW :21503 P'Mark <l Previous > Next r n L J Full Screen © Tutorial i Lab Values =* Notes Calculator Reverse Color CEA ) Text Zoom §! i Settings A (ChoiceC ) Glycogen storage diseases cause defective metabolism of glycogen in the liver and/or muscles. The presentation can include hypoglycemia, lactic acidosis, hepatomegaly, growth retardation, and/or muscle fatigue/cramping. Cardiomegaly can occur with Pompe disease, but corneal clouding is not a feature. (Choice E ) Niemann-Pick disease results from a deficiency of sphingomyelinase, which leads to the accumulation of sphingomyelin within phagocytes. This disease is characterized by hepatosplenomegaly and progressive neurologic deterioration, but eye findings include a cherry-red spot on the macula, not corneal clouding. Educational objective : Hurler syndrome is a mucopolysaccharidosis caused by a deficiency of alpha-L-iduronidase, which hydrolyzes dermatan and heparan sulfate. Accumulation of these substances results in the characteristic features of intellectual disability, coarse facial features, corneal clouding, and hepatosplenomegaly. Early death due to cardiac complications (eg, myocardial infarction) is expected. References • Early disease progression of Hurler syndrome. Block Time Remaining:00:02:05 TUTOR https://t.me/USMLEWorldStep1 i Suspend O End Block — Item 1 of 1 Question W: 21503 P' Mark <l Previous > Next rn L J Full Screen © Tutorial i Lab Values =* Notes Calculator Reverse Color CEA) Text Zoom i§! Settings A ( Choice C ) Glycogen storage diseases cause defective metabolism of glycogen in the liver and/or muscles. The presentation can include hypoglycemia, lactic acidosis, hepatomegaly, growth retardation, and/or muscle fatigue/cramping. Cardiomegaly can occur with Pompe disease, but corneal clouding is not a feature. ( Choice E) Niemann-Pick disease results from a deficiency of sphingomyelinase, which leads to the accumulation of sphingomyelin within phagocytes. This disease is characterized by hepatosplenomegaly and progressive neurologic deterioration, but eye findings include a cherry-red spot on the macula, not corneal clouding. Educational objective: Hurler syndrome is a mucopolysaccharidosis caused by a deficiency of alpha-L-iduronidase, which hydrolyzes dermatan and heparan sulfate. Accumulation of these substances results in the characteristic features of intellectual disability, coarse facial features, corneal clouding, and hepatosplenomegaly. Early death due to cardiac complications (eg, myocardial infarction) is expected. References • Early disease progression of Hurler syndrome. Block Time Remaining: 00:02:05 TUTOR https://t.me/USMLEWorldStep1 i Suspend O End Block

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