Irreversible complication of untreated galactosemia is

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Pediatric Endocrine Exam Questions Questions

Question 1 of 5

Irreversible complication of untreated galactosemia is

Correct Answer: D

Rationale: Untreated galactosemia causes irreversible intellectual disability from brain damage, more permanent than cataracts (B), sepsis (A), or organ injuries (C, D), which may be treatable.

Question 2 of 5

In mucopolysaccharidosis, disproportionate severe CNS involvement with mild physical features is unique to

Correct Answer: D

Rationale: Sanfilippo disease (MPS III) uniquely features severe CNS involvement (dementia) with milder somatic findings, unlike others (A-D).

Question 3 of 5

All the following drugs are unsafe in acute intermittent porphyria EXCEPT

Correct Answer: A

Rationale: Nifedipine is safe in AIP, unlike diclofenac (B), cimetidine (C), valproic acid (D), and carbamazepine (E), which induce heme synthesis and exacerbate attacks.

Question 4 of 5

In older infants and children, hypoglycemia is defined as whole blood glucose concentration less than

Correct Answer: D

Rationale: Hypoglycemia in children is defined as blood glucose <60 mg/dL, a standard threshold, unlike lower neonatal values (A-C) or higher normal ranges (E).

Question 5 of 5

The MOST specific and important laboratory finding in X-linked adrenoleukodystrophy (ALD) is elevated level of

Correct Answer: D

Rationale: Elevated very long chain fatty acids (VLCFAs) are the specific diagnostic marker for X-linked ALD, reflecting peroxisomal dysfunction, unlike hormones (A, B, C, E).

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