Storage diseases in which the missing enzyme is one that degrades sphingolipids sphingomyelin, ceramides, gangliosides). In Tay Sachs disease the lesion is in hexosiminidase A, an enzyme that degrades ganglioside Gm2, in Gaucher's disease, glucocerebrosidase, in Niemann-Pick disease, sphingomyelinase.

This entry appears with permission from the Dictionary of Cell and Molecular Biology

(11 Mar 2008)