Idiopathic familial hypercalciuria (IHC) is treated by

Correct Answer: B

Rationale: Idiopathic familial hypercalciuria (IHC) is treated by normal calcium intake with low sodium and low oxalate intake to reduce stone risk, sometimes requiring potassium citrate or thiazides.

Correct Answer: D

Rationale: Homocystinuria’s constant threat is arterial thromboses due to homocysteine’s vascular toxicity, a life-threatening complication outweighing skeletal (B, C), ocular (A), or cognitive (D) issues.

Correct Answer: C

Rationale: Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency is a known cause of SIDS due to hypoketotic hypoglycemia during fasting stress, more commonly than other fatty acid oxidation disorders.

Correct Answer: D

Rationale: GM2 gangliosidosis (Tay-Sachs) classically features cherry-red spots in the macula from lipid accumulation in retinal ganglion cells, a hallmark finding.

Correct Answer: D

Rationale: All except E (Williams syndrome, linked to 7q deletion) represent a continuum of findings due to chromosome 22q deletion, including cleft palate, cardiac defects, and T-cell dysfunction.