Flashcards: Metabolic disorders

Inborn errors of purine–pyrimidine metabolism are a class of inborn error of metabolism disorders specifically affecting purine metabolism and pyrimidine metabolism.

Coeliac disease, also spelled celiac disease, is an autoimmune disorder affecting primarily the small intestine that occurs in people who are genetically predisposed.

Ketoacidosis is a metabolic state associated with high concentrations of ketone bodies, formed by the breakdown of fatty acids and the deamination of amino acids.

Pancreatitis is inflammation of the pancreas.

Protein–energy malnutrition (PEM) or protein–calorie malnutrition refers to a form of malnutrition where there is inadequate calorie or protein intake.

Metreleptin (Myalept) is a synthetic analog of the hormone leptin used to treat diabetes and various forms of dyslipidemia.

Wolfram syndrome, also called DIDMOAD (diabetes insipidus, diabetes mellitus, optic atrophy, and deafness), is a rare autosomal-recessive genetic disorder that causes childhood-onset diabetes mellitus, optic atrophy, and deafness as well as various other possible disorders.

Gout is usually characterized by recurrent attacks of inflammatory arthritis—a red, tender, hot, and swollen joint.

Mucopolysaccharidoses are a group of metabolic disorders caused by the absence or malfunctioning of lysosomal enzymes needed to break down molecules called glycosaminoglycans.

Multiple organ dysfunction syndrome (MODS), also known as multiple organ failure (MOF), total organ failure (TOF) or multisystem organ failure (MSOF), is altered organ function in an acutely ill patient requiring medical intervention to achieve homeostasis.

Hyperuricemia is an abnormally high level of uric acid in the blood.

Hyperglycemia, or high blood sugar (also spelled hyperglycaemia or hyperglycæmia) is a condition in which an excessive amount of glucose circulates in the blood plasma.

Familial Mediterranean fever (FMF), also known as Armenian disease, is a hereditary inflammatory disorder.

Fructose malabsorption, formerly named "dietary fructose intolerance" (DFI), is a digestive disorder in which absorption of fructose is impaired by deficient fructose carriers in the small intestine's enterocytes.

Osteomalacia is the softening of the bones caused by impaired bone metabolism primarily due to inadequate levels of available phosphate, calcium, and vitamin D, or because of resorption of calcium.

Alkaptonuria (black urine disease, black bone disease, or alcaptonuria) is a rare inherited genetic disorder in which the body cannot process the amino acids phenylalanine and tyrosine, which occur in protein.

Inborn errors of metabolism form a large class of genetic diseases involving congenital disorders of metabolism.

Lactose intolerance is the inability of adults and children to digest lactose, a sugar found in milk and to a lesser extent dairy products, causing side effects.

Methemoglobinemia (or methaemoglobinaemia) is a disorder characterized by the presence of a higher than normal level of methemoglobin (metHb, i.e., ferric [Fe3+] rather than ferrous [Fe2+] haemoglobin) in the blood.

Osteoporosis is a disease where decreased bone strength increases the risk of a broken bone.

Phenylketonuria (PKU) is an inborn error of metabolism that results in decreased metabolism of the amino acid phenylalanine.

Rickets is defective mineralization or calcification of bones before epiphyseal closure in immature mammals due to deficiency or impaired metabolism of vitamin D, phosphorus or calcium, potentially leading to fractures and deformity.

Alcohol flush reaction is a condition in which an individual develops flushes or blotches associated with erythema on the face, neck, shoulders, and in some cases, the entire body after consuming alcoholic beverages.

Glycogen storage disease (GSD, also glycogenosis and dextrinosis) is the result of defects in the processing of glycogen synthesis or breakdown within muscles, liver, and other cell types.

Hypophosphatasia is a rare, and sometimes fatal, metabolic bone disease.

Hypernatremia, also spelled hypernatraemia, is a high sodium level in the blood.

Winchester syndrome is a rare congenital connective tissue disease described in 1969, of which the main characteristics are short stature, marked contractures of joints, opacities in the cornea, a coarse face, dissolution of the carpal and tarsal bones (in the hands and feet, respectively) and osteoporosis.

Maple syrup urine disease (MSUD), also called branched-chain ketoaciduria, is an autosomal recessive metabolic disorder affecting branched-chain amino acids.

Trimethylaminuria (TMAU; primary trimethylaminuria), also known as fish odor syndrome or fish malodor syndrome, is a rare metabolic disorder that causes a defect in the normal production of an enzyme named flavin-containing monooxygenase 3 (FMO3).

Refsum disease, also known as classic or adult Refsum disease, heredopathia atactica polyneuritiformis, phytanic acid oxidase deficiency and phytanic acid storage disease, is an autosomal recessive neurological disease that results from the over-accumulation of phytanic acid in cells and tissues.

Tyrosinemia or tyrosinaemia is an error of metabolism, usually inborn, in which the body cannot effectively break down the amino acid tyrosine.

Hypoproteinemia (or hypoproteinaemia) is a condition where there is an abnormally low level of protein in the blood.

Bone resorption is resorption of bone tissue, that is, the process by which osteoclasts break down the tissue in bones and release the minerals, resulting in a transfer of calcium from bone tissue to the blood.

Refeeding syndrome is a syndrome consisting of metabolic disturbances that occur as a result of reinstitution of nutrition to patients who are starved, severely malnourished or metabolically stressed due to severe illness.

Danon disease (or glycogen storage disease Type IIb) is a metabolic disorder.

High anion gap metabolic acidosis is a form of metabolic acidosis characterized by a high anion gap (a medical value based on the concentrations of ions in a patient's serum).

X-linked hypophosphatemia (XLH), also called X-linked dominant hypophosphatemic rickets, X-linked vitamin d-resistant rickets, is an X-linked dominant form of rickets (or osteomalacia) that differs from most cases of rickets in that ingestion of vitamin D is relatively ineffective.

A metabolic disorder can happen when abnormal chemical reactions in the body alter the normal metabolic process.

Salicylate sensitivity, also known as salicylate intolerance, is any adverse effect that occurs when a usual amount of salicylate is ingested.