Gaucher’s disease is a lysosomal storage disorder caused by deficiency of the enzyme glucocerebrosidase. This leads to accumulation of glucocerebroside in macrophages, producing Gaucher cells. The other enzymes are associated with different disorders:
- Hexosaminidase A — Tay-Sachs disease
- Alpha-galactosidase A — Fabry disease
- Sphingomyelinase — Niemann-Pick disease