In general, albinism is characterized by all of the following EXCEPT

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Endocrine System Pediatrics Questions

Question 1 of 5

In general, albinism is characterized by all of the following EXCEPT

Correct Answer: D

Rationale: Nail hypoplasia is not a feature of albinism; others relate to melanin deficiency.

Question 2 of 5

Matching: Isovaleric acidemia

Correct Answer: D

Rationale: Isovaleric acidemia can present with pancytopenia during crises due to bone marrow suppression.

Question 3 of 5

In addition to routine supportive care, what additional therapy would be most appropriate for the child in the previous question?

Correct Answer: A

Rationale: Vitamin B12 treats methylmalonic acidemia in B12-responsive forms, reducing toxic metabolites.

Question 4 of 5

Lysinuric protein intolerance is characterized by all of the following EXCEPT

Correct Answer: A

Rationale: Mental retardation is not universal in lysinuric protein intolerance; other features are typical.

Question 5 of 5

Matching: X-linked

Correct Answer: C

Rationale: X-linked adrenoleukodystrophy is a peroxisomal disorder.

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