Pediatrics MCQs/ Inborn errors of metabolism

1. All of the following conditions can cause failure to thrive (FTT) between 6-12 months of age except:
a. Psychosocial FTT
b. Gastroesophageal reflux
c. Intestinal parasites
d. Renal tubular acidosis
e. Inborn errors of metabolism
exp: Inborn errors of metabolism can cause FTT in patients between 0–6 months of age
2. A 2-day-old male newborn infant appears with vomiting, tachypnea, lethargy, and convulsion. He
was born by NSVD with Apgar scores of 9 and 9 at 1 and 5 minutes respectively. A physical
examination reveals mild hepatosplenomegaly. A sepsis work up is performed. The boy is receiving
ampicillin, gentamicin, and phenobarbital. The laboratory studies reveal normal arterial blood gas
and serum electrolytes. The serum ammonia level is 1,050 µM. All of the following enzyme
deficiencies can produce hyperammonemia except:
a. Carbamyl phosphate synthetase
b. Glycine cleavage enzyme
c. Ornithine transcarbamylase
d. Arginosuccinate synthetase
e. N-Acetylglutamate synthetase
3. The therapy for hyperammonemia in infants includes all of the following except:
a. High protein therapy intravenously.
b. Give adequate calories, fluid, and electrolytes intravenously.
c. Sodium benzoate
d. Sodium phenylacetate
e. Arginine hydrochloride
4. A 3-day-old preterm female infant appears sudden onset of respiratory distress. Her condition
worsens despite antibiotics (ampicillin and gentamicin) and ventilator therapies. The blood tests
reveal elevated citrulline, alanine, glutamine, and ammonia (3,500 µM) levels. All of the following
statements are true about this condition except:
a. The cause is carbamyl phosphate synthetase deficiency.
b. The therapy for hyperammonemia should be started as soon as possible.
c. The patient recovers without sequelae.
d. Hyperammonemia does not recur with normal protein diet.
e. The therapy for hyperammonemia should be continued vigorously
5. A male child appears with night blindness, icthyosis, and peripheral neuropathy. He has Refsum
disease. The preferred therapy is:
a. Phytanic acid-restricted diet
b. Carboxylic acid-restricted diet
c. Pristanic acid-restricted diet
d. Citric acid-restricted diet
 e. Bile acid-enriched diet
6. The enzyme deficiency in patients with classic Refsum disease is:
a. Acyl-CoA oxidase
b. 2-Methyl acyl CoA oxidase
c. Phytanoyl-CoA
d. D-bifunctional protein
e. Very long chain fatty acids
7. A 5-day-old male appears with a poor feeding and vomiting for the last 24 hours. He was born by a
NSVD with Apgar scores of 9 and 9 at 1 and 5 minutes respectively. He went home 2 days after the
delivery. A physical examination reveals lethargy, hypertonicity, muscular rigidity, and
opisthotonos. A full sepsis work up administered. The boy reveals a flaccidity between
hypertonicities. The CBC and SMA6 are normal. The boy has a mild metabolic acidosis. The most
likely diagnosis is:
a. Maple syrup urine disease
b. Phenylketonuria
c. Mathylmalonic acidemia
d. Hyperglycinemia
e. Hyperammonemia
8. The enzyme deficiency in Tay-Sachs disease is:
a. Lysosomal hydrolase
b. Alpha-galactosidase A
c. Beta-galactosidase
d. Beta-hexosaminidase A isozyme
e. Beta-hexosaminidase A and B isozymes
9. The enzyme deficiency in Sandhoff disease is:
a. Glucose-6-phosphatase
b. Acid maltase
c. Liver phosphorylase
d. Pyruvate dehydrogenase
e. Beta-hexosaminidase A and B isozymes
10. A 3-month-old boy appears with hypoglycemic seizures. A physical examination reveals short
stature, hepatomegaly, protruberant abdomen, and doll-like facies. The laboratory findings reveal
hypoglycemia, lactic acidosis, hyperuricemia, and hyperlipidemia. The most likely enzyme
deficiency is:
a. Glucose-6-phosphatase
b. Acid maltase
c. Galatose-1-phosphate uridyltransferase
d. Myophosphorylase
e. Fructokinase
11. A 4-month-old girl appears with hepatomegaly, massive cardiomegaly, pulmonary atelactasis with a
secondary infection. ECG reveals prominent P waves, short P-R intervals, massive QRS voltages,
biventricular hypertrophies, and intraventricular conduction delays. The most likely diagnosis is:
 a. Endocardial cushion defect
b. Pompe disease
c. Myocarditis
d. Pericarditis
e. Pneumonia causing cardiac failure
12. The enzyme deficiency in patients with Pompe disease is:
a. Pyruvate dehydrogenase
b. Glucose-6-phosphate translocase
c. Liver phosphorylase
d. Glycogen synthetase
e. Acid maltase
Exp: Acid maltase (acid alpha-glucosidase)
13. The preferred diagnostic study in patients with Pompe disease is:
a. Renal biopsy
b. Muscle biopsy
c. Serum CK level
d. Acid maltase levels in WBCs
e. Serum acid maltase level
14. A newborn has galactosemia. Elimination of galactose from diet reverses all of the following
conditions except:
a. Cataracts
b. Growth failure
c. Hepatic dysfunction
d. Renal dysfunction
e. Learning disabilities
15. A newborn appears with jaundice, vomiting, hypoglycemia, convulsion, and lethargy. A physical
examination reveals cataracts, vitreous hemorrhage, and hepatosplenomegaly. The most likely
enzyme defect is:
a. Galactokinase deficiency
b. Fructokinase deficiency
c. Glycogen synthetase deficiency
d. Phosphorylase kinase deficiency
e. Uridyl transferase deficiency
16. The hallmark of type I glycogen storage disease includes all of the following except:
a. Hypoglycemia
b. Lactic acidosis
c. Hyperuricemia
d. Hyperlipidemia
e. Markedly elevated liver transaminase levels
17. In type I glycogen storage disease, easy brusing and epistaxis are common. These findings are due
to the following reason:
a. Impaired platelet aggregation and adhesion resulting in prolonged bleeding time
 b. Thrombocytopenia
c. Factor IX deficiency
d. Factor XI deficiency
e. Fragile capillaries
18. In type I glycogen storage disease, “milky” appearance in plasma is due to elevation of the
following component:
a. Cholesterol
b. Phospholipids
c. Bile
d. Lymph
e. Triglyceride
19. In type I glycogen storage disease, the definitive diagnosis is made by the following study:
a. Ultrasonography of the liver
b. CT scan of the liver
c. MRI of the liver
d. Nuclear scan of the liver
e. Biopsy of the liver
20. In patients with type I glycogen storage disease, hypoglycemia should be avoided by the following
therapy in early infancy:
a. Nasogastric drip feeding containing elemental enteral formula or glucose or glucose
polymer to provide sufficient glucose during the night. Frequent feedings with high
carbohydrate content are provided during the day.
b. Intravenous glucose (10%) infusion for 24 hours to avoid hypoglycemia.
c. Intravenous lactated Ringer solution should be given at night and oral glucose solution
during the day.
d. Nasogastric drip of fructose at night and glucose during the day.
e. Nasogastric drip of galactose at night and fructose during the day.
21. The cure for patients with type I glycogen storage disease is:
a. Allopurinol
b. 1-deamino-8-D-arginine vasopressin
c. Citrate supplement
d. Granulcyte-colony-stimulating factor
e. Orthotoic liver transplantation
22. A newborn appears with vomiting, diarrhea, and jaundice. Physical examination reveals cataract
and hepatosplenomegaly. Urinalysis reveals reducing substance in urine. Preliminary diagnosis is
galactosemia. The following statements are true about galactosemia except:
a. Elimination of galactose from diet invalidates enzyme assay.
b. Decreased galactose 1-phosphate uridyl transferase activity
c. Elevated galactose 1-phosphate level
d. Cataract is due to increased galactitol.
e. Never do galactose tolerance test
23. A 3-day-old male appears with history of poor feeding and vomiting. Physical examination reveals
lethargy, jaundice, a full anterior fontanelle, and hepatomegaly. Sepsis work up was performed.
Blood culture and CSF culture reveal Gram-negative rods. Urine is positive for reducing substances.
Most likely diagnosis:
a. Group B Streptococcus meningitis
b. S. aureus bacteremia
c. G6PD deficiency with meningitis
d. ‘ABO’ hemolytic disease with meningitis
e. Galactosemia
24. Patients with galactosemia are at increased risk for neonatal sepsis due to the following organism:
a. E. coli
b. Group B Streptococcus
c. Staphylococcus aureus
d. Candida albicans
e. Pseudomonas aeruginosa
25. A 18-year-old-girl has PKU (phenylketonuria). She got married and wanted to have a baby. She is
asymptomatic. She should begin low phenylalanine diet:
a. After pregnancy test results
b. After the baby is delivered
c. Before conception
d. Just before the delivery
e. During lactation
26. A 6-month-old girl appeared in a clinic for vomiting and developmental delay. The girl was
asymptomatic at birth. She has poor head control. Mother noticed mousy odor in her diaper.
Physical examination revealed fair skin, blond hair, and eczematous skin lesions. Most likely
diagnosis:
a. Phenylketonuria (PKU)
b. Pompe disease
c. Tay-Sachs disease
d. Maple syrup urine disease
e. Alcaptonuria
27. A pregnant mother with PKU (phenylketonuria) is supposed to take low phenyl alanine diet. She is
noncompliant. The least likely effects on fetus:
a. Hydrocephalus
b. Microcephaly
c. Increased risk of abortion
d. Mental retardation
e. Congenital cardiac defect
28. All of the following statements are true about PKU (phenylketonuria) except:
a. A pregnant mother with hyperphenylalaninemia should be on phenylalanine-restricted
diet during pregnancy.
 Exp: A pregnant mother with hyperphenylalaninemia should be on phenylalanine–
restricted diet before and during pregnancy.
b. Infants with persistent plasma phenylalanine level above 6 mg/dL should be treated with
phenylalanine-restricted diet as soon as the diagnosis is confirmed.
c. Infants do not need dietary restriction if the plasma phenylalanine levels are between 2–6
mg/dL.
d. All patients should be on phenylalanine-restricted diet for life.
e. Phenylalanine is not synthesized in the body.
29. An infant is being treated with phenylalanine-restricted diet. He develops rash, lethargy, anemia,
anorexia, diarrhea, and failure to thrive. The most likely diagnosis is:
a. Secondary infection
b. Viral gastroenteritis
c. Phenylalanine deficiency
d. Phenylalanine toxicity
e. Iron deficiency anemia
30. The mode of inheritance of PKU (phenylketonuria) is:
a. Autosomal recessive
b. Autosomal dominant
c. X-linked recessive
d. X-linked dominant
e. Multifactorial
31. The enzyme deficiency in PKU is:
a. Phenylalanine hydrogenase
b. Phenylalanine synthetase
c. Phenylalanine hydroxysynthase
d. Phenylalanine aminotransferase
e. Phenylalanine hydroxylase
32. The most important organ affected in PKU is:
a. CNS
b. Peripheral nervous system
c. Cardiovascular
d. Liver
e. Gastrointestinal tract
33. The urine odor of a newborn smells like boiled cabbage. The most likely diagnosis is:
a. Glutaric acidemia
b. Isovaleric acidemia
c. Phenylketonuria
d. Maple syrup urine disease
e. Tyrosinemia
34. A newborn appears with a mousy or musty odor in the urine. The most likely diagnosis is:
a. Hawkinsinuria
b. Tyrosinemia
 c. Phenylketonuria
d. Glutaric acidemia (type II)
e. Multiple carboxylase deficiency
35. A child appears with a chronic fatigue, recurrent epistaxis, bone pain, and bruise that occurs easily.
A physical examination reveals a pale child with hepatosplenomegaly and generalized tenderness
over the long bones. The ENT findings are normal. The laboratory studies reveal anemia,
thrombocytopenia, and elevated liver function tests. The long bone x-ray reveals an Erlenmeyer
flask deformity of the distal femur. The most likely diagnosis is:
a. Tay-Sachs disease
b. GM1 gangliosidosis
c. Fabry disease
d. Niemann-Pick disease type 1
e. Gaucher disease type 1
36. A 7-day-old female child is diagnosed with MSUD (maple syrup urine disease). All of the following
are elevated except:
a. Leucine
b. Valine
c. Alanine
d. Isoleucine
e. Alloisoleucine
37. A 5-day-old male infant appears with feeding, vomiting, and lethargy for the last 24 hours. He was
born by NSVD with good Apgar scores. He was mildly jaundiced but did not require phototherapy. A
physical examination reveals hypertonicity, muscular rigidity, and opisthotonos. The infant
developed convulsion in the ER. The laboratory studies reveal hypoglycemia and metabolic acidosis.
The infant has a peculiar odor. Sepsis work up was performed including lumbar tap. The infant
received ampicillin and gentamicin. All cultures are negative. Head CT scan reveals cerebral edema
that is most prominent in the cerebellum, cerebral peduncle, dorsal brain stem, and internal
capsule. The most likely diagnosis is:
a. Group B Streptococcus meningitis
b. Parvovirus B19 infection
c. Child abuse
d. Maple syrup urine disease
e. Subarachnoid hemorrhage
38. The diagnosis of maple syrup urine disease is confirmed by:
a. Peculiar odor of maple syrup is noted in urine, sweat, and cerumen.
b. Decreased plasma levels of leucine, isoleucine, and valine
c. Increased plasma levels of leucine, isoleucine and valine
d. Decreased urine levels of leucine, isoleucine, and valine.
e. Increased plasma levels of maple syrup
39. The preferred therapy in patients with maple syrup urine disease is:
a. Peritoneal dialysis
b. Exchange transfusion
 c. Sodium bicarbonate
d. Phenobarbital
e. Liver transplantation
40. All of the following peroxisomal disorders have elevated very long chain fatty acids (VLCFA) in
plasma except:
a. Zellweger syndrome
b. Acyl-CoA oxidase deficiency
c. Bifunctional enzyme defect
d. X-linked adrenoleukodystrophy
e. Rhizomelic chondrodysplasia punctate
41. A newborn appears with a high forehead, upward slanting of palpebral fissures, epicanthal folds,
hypoplastic supraorbital ridges, hypotonia, neonatal seizures, and eye abnormalities (e.g.,
Brushfield spots, cataracts, glaucoma, corneal clouding, and optic nerve dysplasia). The most likely
diagnosis is:
a. Down syndrome
b. Zellweger syndrome
c. Klinefelter syndrome
d. Williams syndrome
e. Infantile refsum disease
42. Mode of inheritance in adrenoleukodystrophy is:
a. Autosomal recessive
b. X-linked
c. Autosomal dominant
d. Single gene mutation
e. Multifactorial
43. Best diagnostic study to detect the carrier of adrenoleukodystrophy is:
a. Elevated of VLCFA in RBCs
b. Elevated levels of VLCFA in plasma
c. Cultured skin fibroblast
d. Chromosome study
e. Mutation analysis
44. Best diagnostic study to diagnose patients with adrenoleukodystrophy is:
a. Elevated levels of VLCFA in plasma and RBCs
b. Elevated levels of cholesterol in plasma
c. Decreased levels of VLCFA in plasma and RBCs
d. Decreased levels of triglyceride in plasma
e. Decreased levels of cholesterol in plasma
45. Prenatal diagnosis of affected male fetus with adrenoleukodystrophy is made by:
a. Elevated VLCFA levels in cultured amniocytes
b. Decreased VLCFA levels in chorionic villus cells
c. Prenatal ultrasonography performed by an expert
d. Fetal hyperactivity in utero
 e. Fetal seizure activities in utero
46. Most common initial manifestation of childhood cerebral form of adrenoleukodystrophy (ALD) is:
a. Hyperactivity
b. Seizures
c. Visual disturbances
d. Difficulty in using telephone
e. Impaired spatial orientation
47. A pregnant mother had lost a 3-year-old boy with Tay-Sachs disease. She is worried about this
pregnancy. Prenatal diagnosis can be made in first trimester by:
a. Amniocentesis
b. Chorionic villous sampling
c. Ultrasonography
d. Leukocyte hexosaminidase A
e. Serum hexosaminidase A determination
48. The patients with a Tay-Sachs disease have the following biochemical defect:
a. Hexosaminidase A and B
b. Neuraminidase
c. Beta-galactosidase
d. Galactocerebrosidase
e. Hexosaminidase A
49. The mode of inheritance in all of the following neurodegenerative disorders is an autosomal
recessive except:
a. GM1 gangliosidosis
b. Tay-Sachs disease
c. Krabbe disease
d. Sialidosis
e. Adrenoleukodystrophy