A 2-year-old girl presented with rapid deep breathing, hypoglycemia, recurrent epistaxis, easy bruising, failure to thrive, fat cheek, and hepatomegaly. Of the following, the MOST likely cause of bleeding tendency is

Correct Answer: C

Rationale: In von Gierke disease, impaired hepatic function from glycogen accumulation reduces clotting factor synthesis, causing bleeding, more than vascular issues (A), platelet count (D), or function (E).

Correct Answer: A

Rationale: HFI requires restricting fructose sources (sorbitol, juice, sugar, cereal, B-E). Milk (A), primarily lactose, is safe and not restricted.

Correct Answer: D

Rationale: Morquio disease (MPS IV) typically preserves intelligence, unlike Sly (A), Hurler (B), Hunter (C), and Sanfilippo (E), which involve cognitive decline.

Correct Answer: B

Rationale: Enzyme assay confirms MPS by detecting specific enzyme deficiencies, more definitive than biopsy (A), imaging (C), marrow (D), or GAG screening (E).

Correct Answer: A

Rationale: CEP, a cutaneous porphyria, causes reddish urine (B), erythrodontia (C), photosensitivity (D), and hyperbilirubinemia (E). Neuropathy (A) is typical of acute porphyrias like AIP.