Gaucher's disease is due to: (AIIMS May 2014)
|B||Accumulation of glucocerebroside|
a. Tay-Sachs disease (Gm2 - Gangliosidosis type 1)
i. Deficiency of Hexosaminidase A and activation of isoenzyme Hexosaminidase B is increased.
b. Niemann- Pick diseases (diagnosed by liver or bone marrow biopsy)
i. Deficiency of sphingomyelinase
c. Gaucher's disease- deficiency of glucocerebrosidase and accumulation of glucocerebroside.
d. Diagnosis by B. M. aspiration
i. NP disease
ii. Gaucher's disease
iii. Mucopolysaccharidosis (MPS)