| Mukopolysacharidosen | Enzym |
|---|---|
| Morbus Hurler (MPS I-H) | α-L-Iduronidase |
| Morbus Scheie (MPS I-S) | α-L-Iduronidase |
| Morbus Hurler-Scheie (MPS I-H/S) | α-L-Iduronidase |
| Morbus Hunter (MPS II) | Iduronat-2-Sulfatase |
| Morbus Sanfilippo Typ A (MPS IIIA) | Heparansulfatsulfamidase (SGSH) |
| Morbus Sanfilippo Typ B (MPS IIIB) | α-N-Acetylglukoseamidase (NAGLU) |
| Morbus Sanfilippo Typ C (MPS IIIC) | Acetyl-CoA α-Glukosaminid-N-Acetyltransferase (HGSNAT) |
| Morbus Sanfilippo Typ D (MPS IIID) | N-Acetyl-Glukosamin-6-Sulfatsulfatase (GNS) |
| Morbus Morquio Typ A (MPS IVA) | N-Acetyl-Glukosamin-6-Sulfatsulfatase |
| Morbus Morquio Typ B (MPS IVB) | β-Galactosidase |
| Morbus Maroteaux-Lamy (MPS VI) | Arylsulfatase B |
| MPS Sly (MPS VII) | β-Glucoronidase |
| Mukolipidosen (ML) | Enzym |
|---|---|
| ML Typ I | Neuramidase |
| ML Typ II | Phosphotransferase |
| ML Typ III | Phosphotransferase |
| ML Typ IV | Mucolipin-1 |
| Sphingolipidosen | Enzym |
|---|---|
| GM1-Gangliosidose Typ I | β-Galactosidase |
| GM1-Gangliosidose Typ II | β-Galactosidase |
| GM1-Gangliosidose Typ III | β-Galactosidase |
| Tay-Sachs-Syndrom | β-Hexoxaminidase A |
| Sandhoff-Krankheit | β-Hexoxaminidase A & B |
| Tay-Sachs-Syndrom AB Variante (GM2-Aktivator-Mangel) | GM2-Aktivator |
| Morbus Fabry | α-Galactosidase |
| Morbus Gaucher Typ I | Glucocerebrosidase |
| Morbus Gaucher Typ II | Glucocerebrosidase |
| Morbus Gaucher Typ III | Glucocerebrosidase |
| Morbus Gaucher Typ IIIC | Glucocerebrosidase |
| Morbus Gaucher perinatal letal | Glucocerebrosidase |
| Metachromatische Leukodystrophie (MDL) | Arylsulfatase A |
| Saposin-B-Mangel | Saposin B |
| Morbus Krabbe | Galactosylceramidase |
| Morbus Krabbe atypisch, SAPOSIN-A-Mangel | Saposin A |
| Niemann-Pick-Krankheit Typ A | Sphingomyelinase |
| Niemann-Pick-Krankheit Typ B | Sphingomyelinase |
| Niemann-Pick-Krankheit Typ C1 | NPC1-Protein |
| Niemann-Pick-Krankheit Typ C2 | NPC2-Protein |
| Morbus Gaucher Saposin-C-Mangel | Saposin C |
| Morbus Farber | saure Ceramidase |
| Multipler Sulfatase-Mangel | Fgly-Generating Enzyme |
| Oligosaccharidosen | Enzym |
|---|---|
| α-Mannosidose | α-Mannosidase |
| β-Mannosidose | β-Mannosidase |
| Fukosidose | α-Fucosidase |
| Aspartylglukosaminurie | Aspartylglukosaminidase |
| Morbus Schindler Typ I | α-Galactosaminidase |
| Sialinsäure-Speicherkrankheit infantil (ISSD) | Sialinsäure-Transporter (Sialin) |
| Sialinsäure-Speicherkrankheit adult (Salla-Krankheit) | Sialinsäure-Transporter (Sialin) |
| Galaktosialidose (Goldberg-Sydrom) | Protectives Protein |
| Neuronale Ceroid-Lipofuszinosen | Enzym |
|---|---|
| Neuronale Ceroid-Lipofuszinose 1 | Palmitolyl-Thio-Esterase |
| Neuronale Ceroid-Lipofuszinose 2 | Tripeptidyl-Peptidase |
| Neuronale Ceroid-Lipofuszinose 3 (Batten-Syndrom) | |
| Neuronale Ceroid-Lipofuszinose 4A | |
| Neuronale Ceroid-Lipofuszinose 4B | |
| Neuronale Ceroid-Lipofuszinose 5 | |
| Neuronale Ceroid-Lipofuszinose 6 | |
| Neuronale Ceroid-Lipofuszinose 7 | |
| Neuronale Ceroid-Lipofuszinose 8 | |
| Neuronale Ceroid-Lipofuszinose 8 (nordische Epilepsie) | |
| Neuronale Ceroid-Lipofuszinose 9 | |
| Neuronale Ceroid-Lipofuszinose 10 |
| Andere | Enzym |
|---|---|
| Pyknodysostose | Cathepsin K |
| Morbus Pompe | Lysosomale α-Glucosidase |
| Cystinose, nephropathisch | Cystin-Transporter |
| Cystinose, adulte, nicht nephropathisch | Cystin-Transporter |
| Wolman-Krankheit/CESD | lysosomale saure Lipase |
| Morbus Danon |
