Skip to main content


Table 1 The sphingolipidoses

From: Sphingolipids: the nexus between Gaucher disease and insulin resistance

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
  1. OMIM, Online Mendelian Inheritance in Man