| Enzym |
Sjukdom |
| Acetyl-CoA:α-glukosaminid-N-acetyltransferas |
Sanfilippo C (MPS IIIC) |
| Arylsulfatas A |
Metakromatisk leukodystrofi
|
| Aspartylglukosaminidas |
Aspartylglukosaminuri
|
|
Chitotriosidas
|
Lysomal markör |
| α-Fukosidas |
Fukosidos
|
| Galaktocerebrosidas |
Krabbe
|
| α-Galaktosidas |
Fabry
|
| β-Galaktosidas |
GM1 gangliosidos
|
|
Galaktos-6-sulfatsulfatas
|
Morquio A (MPS IVA)
|
|
α-Glukosidas
|
Pompe |
|
β-Glukosidas
|
Gaucher
|
|
β-Glukuronidas
|
Sly (MPS VII)
|
|
Heparansulfamidas
|
Sanfilippo A (MPS IIIA) |
|
Hexosaminidas A (sulfat)
|
Tay-Sachs |
|
Hexosaminidas A+B
|
Sandhoff |
|
α-N-acetylglukosaminidas
|
Sanfilippo B (MPS IIIB) |
|
Iduronat-2-sulfatsulfatas
|
Hunters sjukdom (MPS II) |
|
α-Iduronidas
|
Hurler; Scheie (MPS I)
|
|
α-Mannosidas
|
Mannosidos
|
|
α-N-acetylgalaktosaminidas
|
Schindler (Alfa-NAGA-brist) |
|
N-acetylglukosamin-6-sulfatsulfatas
|
Sanfilippo D (MPS IIID) |
|
Neuraminidas
|
Sialidos
|
| Palmitoylproteintioesteras |
Infantil neuronal ceroidlipofuscinos (Santavuori-Haltias sjukdom; CLN1) |
|
Sfingomyelinas, surt
|
Niemann-Pick A/B |
