🏥 USMLE Exam Prep

A 6-month-old infant presents with developmental regression, hypotonia, and a "cherry-red spot" on macular examination. Deficiency of which enzyme is most consistent with this presentation?

A Glucocerebrosidase
B Sphingomyelinase
C Hexosaminidase A
D Arylsulfatase A

✓ Correct Answer: Option C

This clinical picture describes Tay-Sachs disease, an autosomal recessive lysosomal storage disorder caused by a deficiency of Hexosaminidase A, leading to the accumulation of GM2 ganglioside in neurons.

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