Lysinuric protein intolerance is characterized by all of the following EXCEPT

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Endocrine System Pediatrics Questions

Question 1 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 2 of 5

Patients with heterozygous familial hypercholesterolemia have xanthomas. The best site to look for xanthomas is

Correct Answer: D

Rationale: Achilles tendon xanthomas are classic in heterozygous FH.

Question 3 of 5

Matching: Lipidosis - GM1-gangliosidosis

Correct Answer: C

Rationale: GM1-gangliosidosis includes both features.

Question 4 of 5

Matching: Glycogen storage diseases - Von Gierke

Correct Answer: B

Rationale: Von Gierke (type I) causes hypoglycemia and hepatomegaly.

Question 5 of 5

Main causes of hypocalcemia in nephrotic syndrome in children are the following EXCEPT

Correct Answer: A

Rationale: Hypocalcemia in nephrotic syndrome is due to low albumin (B), reduced calcium absorption (C), and loss of vitamin D-binding protein (D). Prednisone (E) can contribute, but decreased renal α-hydroxylase (A) is not a primary cause; it’s more linked to renal failure.

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