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)

Back to Lysosomal Storage Disorders Index

Back to Alphabetical List of Assays Available