A 25-year-old man presents with burning pain in hands and feet, angiokeratomas in the bathing trunk area, and proteinuria progressing to renal failure. Corneal opacities are noted on slit-lamp examination. A deficiency of which enzyme is responsible?

• A Galactocerebrosidase
• B Alpha-galactosidase A ✓
• C Arylsulfatase A
• D Alpha-L-iduronidase

Explanation

This is Fabry disease, an X-linked lysosomal storage disorder caused by alpha-galactosidase B deficiency leading to globotriaosylceramide (Gb3, ceramide trihexoside) accumulation. Galactocerebrosidase deficiency causes Krabbe disease. Arylsulfatase B deficiency causes metachromatic leukodystrophy. Alpha-L-iduronidase deficiency causes Hurler syndrome (MPS I).

Reference: Robbins and Cotran Pathologic Basis of Disease, 10th ed.

High-yield for: NEET PGINI-CETNExTFMGEUSMLEPLABMRCP

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