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Biochemistry Miscellaneous (Bio-Chemistry) 07c191e2

Gaucher's disease is due to enzyme deficiency of

A
Glucocerebrosidase
B
Sphingomyelinase
C
Hexosaminidase
D
Ceramidase
High-Yield Explanation
(A) Glucocerebrosidase# Gaucher disease refers to a duster of autosomal recessive disorders resulting from mutations in the gene encoding glucocerebrosidase. This disease is the most common lysosomal storage disorder.> This affected gene encodes glucocerebrosidase, an enzyme that normally cleaves glucose residue from ceramide> As a result, glucocerebroside accumulates principally in the phagocytic cells of the body but in some forms also in the central nervous system.> Glucocerebrosides derived mainly from the cell membranes of leukocytes and erythrocytes.

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