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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