Sphingolipidoses

DISORDER ENZYME OR TEST
Tay-Sachs disease* b-hexosaminidase
Sandhoff disease* b-hexosaminidase
GM1-gangliosidosis* b-galactosidase
Gaucher disease* b-glucosidase

Chitotriosidase
Krabbe disease* Galactocerebrosidase
Metachromatic leucodystrophy* Arylsulphatase A
Fabry disease* a-galactosidase A
Farber disease Ceramidase
Niemann-Pick disease types A and B* Sphingomyelinase

 (* = prenatal diagnosis available)

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Back to Alphabetical List of Assays Available