The earliest radiographic sign in Hurler syndrome is

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Question 1 of 5

The earliest radiographic sign in Hurler syndrome is

Correct Answer: C

Rationale: Enlarged J-shaped sella is an early radiographic sign in Hurler syndrome from glycosaminoglycan (GAG) accumulation, preceding other skeletal changes (A, B, D, E).

Question 2 of 5

Acute intermittent porphyria (AIP) could be exacerbated by all the following EXCEPT

Correct Answer: D

Rationale: AIP is worsened by surgery (A), hormonal changes (B, C, D), and fasting (opposite of E). Increased carbohydrate intake prevents attacks, making E the exception.

Question 3 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 4 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 5 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.

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