Question
Biochemistry Question on Concepts and regulation of metabolism of amino acids
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
Glucocerebrosidase
B
Sphingomyelinase
C
Hexosaminidase
D
Glucose6-phosphatase
Answer
Glucocerebrosidase
Explanation
Solution
The correct option is (A) : Glucocerebrosidase