May 2023
1. 3 years old, known case of citrullinemia, recent history of coryza,
low grade fever, presented with vomiting, RBS 3.9 (normal 3-5),
normal vitals.
What would be the initial investigation for immediate Management?
(Metabolism & metabolic medicine 100%)
1. Blood culture
2. Blood Ammonia
3. Urea and electrolytes
4. Blood glucose
5. Citrulline level
2. 3 weeks old baby was presented with vomiting, drowsiness, poor
feeding and he was afebrile. There was a family history of +ve
consanguinity. Investigations were done and antibiotics started. RBS
1, CBC, U&E were normal. Serum ammonia was 350. What is the next
step in management? (Metabolism &
metabolic medicine 100%)
1. IV D10% + 0.9% NaCL
2. NGT feeding
3. Lumbar puncture
4. Peritoneal dialysis
5. Urine analysis
6. CT brain
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3. Neonate after 48 hours was reviewed for generalized seizure and
vomiting. Was drowsy, lethargic and hypotonic. (Metabolism and
metabolic Medicine 100%)
Investigations:
PH 7.2
PCO2 normal
HCO3 11
RBS 1.2
What is the diagnosis?
1. Organic acidemia
2. HIE
3. MCCAD
4. Glycogen storage disease type 1
4. 9 months old boy, with failure to thrive, at 4 months mom started
solid food, at the age of 5 months his height and weight began to
decrease, he was constipated, mother changed the formula milk and
the baby also took laxatives that did not help, urine showed
glycosuria +1 and proteinuria +1, bicarb 11, ALP 1300.
What is the most appropriate diagnosis? (Metabolism and metabolic
medicine 100%)
1. Cystinosis
2. William syndrome
3. Primary hyperparathyroidism
4. Hypophosphatemic rickets
5. Celiac
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JANUARY 2023
1. EMQ (METABOLIC 100% & GIT 100% & ADOLESCENT 100%)
You will be provided with a list of dyslipidaemia :
Familial hypercholesteremia
Abeta lipoprotinemia
Lipoprotien lipase deficiency
Anorexia nervosa
Intestinal lymphangectasia
Diabetes mellitus
Lipodystrophy
CF
1. child with xanthelasma on elbows and high total cholesterol, high
LDL, high Triglycerides, low HDL.
Familial hypercholesteremia
2. Child who is very thin, wasted face, refused to undress, high rbs 8
mmol/l , very high insulin 102 , high triglycerides, other lipid profile
within normal .
ANOREXIA NERVOSA
3. Child with greasy foul stool , ataxia, total cholesterol is low,
triglycerides low , HDL low, LDL low, albumin low
ABETALIPOPROTINEMIA
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2. 1 DAY old baby boy presented with hypothermia 35.8 , poor
feeding, floppy, PH (7.49) , pco2 (3.5) , hco3 ( 22), RBS 6.8
what is the investigation that will much help you in establishing
diagnosis?
(METABOLIC 100%)
A. Ammonia
B. Blood culture
C. RBS
D. Lactate
E. CXR
3. 5 days old baby , on formula feeding , has vomiting , bleeding from
umbilical stump , billirubin 240 , unconjugated 220 , high ALT (120),
high AST (140) , High INR (4.3) , PT ( 67) , PTT ( 123) , LOW fibrinogen
0.35 ,blood and urine cultures are negative, what is the best test that
will help you to reach a diagnosis?
(METABOLIC 100%)
A. GALPUT
B. Liver biopsy
C. Lactate
D. Random blood sugar
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January2022
1. Scenario in the beginning like cow milk protein allergy. 8 months
old infant boy has constipation, not improved on laxatives, faltering
growth despite changing many types of formulas. Investigations:
Na135, k 3.5, phosphate 0.8 (lower limit 1) glycosuria…proteinuria
…high PTH. High ALP. What is the Diagnosis:… 100 % metabolic & 100
nephro
● Cystinosis
● Hypophophatemic rickets
● Renal artery stenosis
● Coeliac
May 2022
1. EMQ: Neonatal hypotonia Dx ( 100 MSK & Metabolic )
a. Myasthenia gravis
b. Myotonic dystrophy
c. Non-ketotic hyperglycinemia
A. Newborn with respiratory difficulty, mother had recent onset
diplopia.
Myasthenia Gravis
B. Newborn with inverted v shaped mouth & feeding difficulty
Myotonic Dystrophy
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C. Newborn with hypotonia , hiccups and feeding difficult.
Non-Ketotic Hyperglycinemia
2. Child suspected of phenylketonuria, what is the best test to
confirm?
(100 Metabolic )
a. Serum amino acids level
b. Urine organic acids
c. Ammonia
3. 10 months old boy presented with increasing lethargy , and
developmental delay , he was born at term , sat at 6 months old but
now is not able to sit , on examination: he has microcephaly , short ,
low weight, abdominal distension, he wasn’t icteric ,liver is large 10
cm below costal margin, No splenomegaly, hypotonic can’t maintain
sitting position and reluctant to use his hands to move toys, He has 3
other siblings from the maternal side, but he is the first born for his
father who has one functioning kidneyLabs: AST, ALT normal, increase
cholesterol, high urate.
Diagnosis? ( 100 Metabolic & Heptaology )
a. Glycogen storage disease
b. Mucopolysaccharidosis
c. autoimmune hepatitis
d. Galactosemia
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4. Ex preterm 26 weeks, now 4 months with underlying metabolic
bone disease of prematurity, what is the most important during for
followup?
(100 Metabolic & Nutrition )
a. parathyroid hormone
b. Ca Level
c. Po4 Level
d. Vitamin D Level
e. urine ca: creatinine ratio
September 2022
1. A full term neonate who was well, on day 2 the baby was found
collapsed in his cot and unresponsive, PH 7.49, CO2 3.5, RBS 3.5,
(respiratory alkalosis) polycythaemia, hypotonia, LFT normal. What
initial investigation to help you in diagnosis? No 100 % metabolic
▪ Serum ammonia
▪ Organic acids
▪ Amino acids
▪ GBS
2. 10 months old boy presented with increasing lethargy, and
developmental delay, he was born at term , sat at 6 months old but
now is not able to sit .
on examination: he has microcephaly , short , low weight , abdominal
distension, he wasn’t icteric ,liver is large 10 cm below costal margin,
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No splenomegaly, hypotonic can’t maintain sitting position and
reluctant to use his hands to move toys, He has 3 other siblings from
the maternal side, but he is the first born for his father who has one
functioning kidney Labs: AST, ALT normal, increase cholesterol, high
urate, Diagnosis ? no 100 metabolic
▪ Glycogen storage disease
▪ Mucopolysaccharidosis
▪ autoimmune hepatitis
▪ Galactosemia
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