A child presents with hepatosplenomegaly, Gaucher cells on bone marrow biopsy (macrophages with 'crumpled tissue paper' cytoplasm), and bone pain. Which enzyme is deficient?
- A Hexosaminidase A — causing GM2 ganglioside accumulation
- B Glucocerebrosidase (acid beta-glucosidase) — causing glucocerebroside accumulation ✓
- C Sphingomyelinase — causing sphingomyelin accumulation
- D Alpha-galactosidase A — causing globotriaosylceramide accumulation
Correct answer: B. Glucocerebrosidase (acid beta-glucosidase) — causing glucocerebroside accumulation
Explanation
Gaucher disease is the most common lysosomal storage disorder, caused by deficiency of glucocerebrosidase (acid beta-glucosidase) encoded by GBA gene, leading to accumulation of glucocerebroside in macrophages. The characteristic Gaucher cells have abundant wrinkled pale cytoplasm resembling 'crumpled tissue paper' and are found in bone marrow, liver, spleen, and lungs. Hexosaminidase A deficiency causes Tay-Sachs. Sphingomyelinase deficiency causes Niemann-Pick. Alpha-galactosidase A deficiency causes Fabry disease.
Reference: Robbins & Cotran Pathologic Basis of Disease, 10th ed.
High-yield for: NEET PGINI-CETNExTFMGEUSMLEPLABMRCP
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