In Gaucher&;s diseases, there is deficiency of: (A) Glucocerebrosidase, (B) Glucokinase, (C) Sphingomyelinase, (D) G-6PD
Answer is A. Enzyme defect Gaucher&;s disease. Beta glucosidase is deficient Salient features: -Glucocerebroside accumulate. adult, infantile, juvenile. Hepatosplenomegaly, erosion of bone, moderate anemia.Ref: DM Vasudevan, 7th edition, page no: 184