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A child presents to you with anemia, thrombocytopenia, and bony pain. On examination, hepatosplenomegaly was noticed. If light microscopy of bone marrow aspirate reveals “crumpled tissue paper” appearance, what is the enzyme defect?
A child presents to you with anemia, thrombocytopenia, and bony pain. On examination, hepatosplenomegaly was noticed. If light microscopy of bone marrow aspirate reveals “crumpled tissue paper” appearance, what is the enzyme defect?
Updated On: Aug 20, 2024
- Glucocerebrosidase
- Sphingomyelinase
- Hexosaminidase
- Glucose6-phosphatase
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The Correct Option is A
Solution and Explanation
The correct option is (A) : Glucocerebrosidase
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