Renal tubular dysfunction in galactosemia may be evidenced by a

Correct Answer: C

Rationale: Galactosemia’s renal tubular dysfunction causes a normal-anion-gap hyperchloremic metabolic acidosis due to impaired bicarbonate reabsorption, consistent with proximal tubulopathy.

Correct Answer: C

Rationale: MPS III (Sanfilippo) spares the cornea but causes retinal degeneration and can lead to papilledema from CNS involvement, unlike other MPS types with corneal clouding.

Correct Answer: A

Rationale: In Patau syndrome, midline facial defects such as cyclopia, cebocephaly, and cleft lip and palate are common, as are CNS anomalies like alobar holoprosencephaly, leading to severe disability and short life expectancy, making A incorrect as the true statement is its opposite.

Correct Answer: B

Rationale: Phenylketonuria (PKU) results in a musty or mousy odor, often described as hoplike, due to phenylacetate accumulation.

Correct Answer: D

Rationale: Niemann-Pick disease type A is due to sphingomyelinase deficiency, leading to sphingomyelin accumulation.