Table 1. Specific enzyme assays performed for the diagnosis of LSDs in MGS/HCPA.
| Disease | Enzyme | Sample* |
|---|---|---|
| Acid lipase deficiency | Lysosomal Acid lipase | L, F, DBS |
| Fabry disease | α-Galactosidase A | P, L, F, DBS |
| Farber disease | Ceramidase | F |
| Fucosidosis | α-Fucosidase | L, F |
| Gaucher disease | β-Glucosidase | L, F, DBS |
| GM1-gangliosidosis/ | β-Galactosidase | L, F, DBS |
| Galactosialidosis/MPS IVB | ||
| GM2-gangliosidosis | Hexosaminidases | P, L, F, DBS |
| Tay-Sachs/Sandhoff | ||
| GM2-gangliosidosis B1 variant | Hexosaminidase A (MUGS) | P, L, F, DBS |
| Krabbe disease | Galactocerebrosidase | L, F |
| α-Mannosidosis | α-Mannosidase | L, F, DBS |
| β-Mannosidosis | β-Mannosidase | L, F |
| Metachromatic leukodystrophy | Arylsulfatase A | L, F |
| MPS I | α-Iduronidase | P, L, F, DBS |
| MPS II | Iduronate sulfatase | P, L, F, DBS |
| MPS IIIA | Heparan sulfamidase | L, F |
| MPS IIIB | N-acetyl-α- glucosaminidase | P, L, F, DBS |
| MPS IIIC | Acetyl-CoA-glucosaminide-N-acetyltransferase | L, F |
| MPS IIID | N-acetyl-glucosamine-6-sulfatase | L, F |
| MPS IVA | N-acetylgalactosamine-6-sulfatase | L, F, DBS |
| MPS IVB | β-Galactosidase | L, F, DBS |
| MPS VI | Arylsulfatase B | L, F, DBS |
| MPS VII | β-Glucuronidase | P, L, F, DBS |
| Neuronal ceroid lipofuscinosis (CLN1) | Palmitoyl | L, F, DBS |
| protein thioesterase | ||
| Neuronal ceroid lipofuscinosis (CLN2) | Tripeptidyl peptidase | L, F, DBS |
| Niemann-Pick disease A/B | Sphingomyelinase | L, F, DBS |
| Pompe disease | α-Glucosidase | L, F |
| Schindler disease | N-acetylgalactosaminidase | P, L, F, DBS |
| Sialidosis/Galactosialidosis | Neuraminidase | F |
*
P: plasma; L: leukocytes; F: fibroblasts; DBS: dried blood spot samples.