A 5-year-old boy presented with chronic diarrhea. On examination he had hepatosplenomegaly, coarse facial features, joint stiffness, clear cornea, and short stature. Of the following, the MOST likely diagnosis is

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Question 1 of 5

A 5-year-old boy presented with chronic diarrhea. On examination he had hepatosplenomegaly, coarse facial features, joint stiffness, clear cornea, and short stature. Of the following, the MOST likely diagnosis is

Correct Answer: B

Rationale: Hunter disease (MPS II) matches with hepatosplenomegaly, coarse facies, clear cornea, and short stature, unlike Hurler (A, cloudy cornea), Scheie (C, milder), Morquio (D, skeletal), or Sanfilippo (E, CNS).

Question 2 of 5

The MOST important screening test of acute intermittent porphyria is

Correct Answer: D

Rationale: Urinary porphobilinogen (PBG) is the key screening test for AIP, elevated during attacks, more specific than other porphyrin tests (A-D).

Question 3 of 5

A 5-year-old child with recurrent attacks of ketotic hypoglycemia. Of the following, the BEST advice to the parents during any intercurrent illness is to

Correct Answer: C

Rationale: High-carbohydrate diet prevents ketotic hypoglycemia during illness by maintaining glucose, more practical than protein (A), ketone testing (B), monitoring (D), or IV glucose (E).

Question 4 of 5

All the following are recognized laboratory findings of medium-chain acyl-CoA dehydrogenase (MCAD) deficiency EXCEPT

Correct Answer: D

Rationale: MCAD deficiency causes hypoglycemia (A), hypoketonuria (B), hypoketonemia (C), and liver enzyme elevation (E) from fasting stress. Metabolic acidosis (D) is less prominent, unlike organic acidemias.

Question 5 of 5

The diagnostic assay of Zellweger syndrome is by elevated level of

Correct Answer: D

Rationale: Elevated very long chain fatty acids (VLCFAs) diagnose Zellweger syndrome, reflecting peroxisomal dysfunction, more specific than other markers (A-D).

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