Table 1.

The sphingolipidoses

disease	clinical phenotype	OMIM number	enzyme deficiency	primary stored sphingolipids
GM1-gangliosidosis types I/II/III		230500	β-galactosidase	GM1 and GA1 ganglioside
GM2-gangliosidosis type A/B		272750	GM2-activator deficiency	GM2 ganglioside
GM2-gangliosidosis type I (B variant)	Tay-Sachs disease	272800	β-hexosaminidase A	GM2 ganglioside
GM2-gangliosidosis type II (O variant)	Sandhoff disease	268800	β-hexosaminidase A and B	GM2 and GA2 ganglioside, and globoside
Gaucher disease		230800 176801	acid β-glucosidase or SAPC or LIMP-2	glucosylceramide
Fabry disease		301500	α-galactosidase A	ceramide trihexoside
metachromatic leukodystrophy		250100 249900	arylsulphatase A or SAPB	sulphated galactosylceramide
globoid cell leukodystrophy	Krabbe disease	245200	β-galactocerebrosidase	galactosylceramide
Niemann-Pick type A/B	Niemann-Pick disease	257200	acid sphingomyelinase	sphingomyelin
Farber lipogranulomatosis	Farber disaese	301500	acid ceramidase	ceramide

OMIM, Online Mendelian Inheritance in Man