Lysosomale Speicherkrankheiten werden grob nach der Art des Speichermaterials unterschieden:
Sphingolipidosen
| Abkürzung | Name | Enzymdefekt |
| GM1-Gangliosidose | ||
| GM2 Gangliosidoes Type 1 | Tay-Sachs | |
| GM2 Gangliosidoes Type 2 | Sandhoff | |
| Morbus Fabry | Alpha-Galaktosidase | |
| Morbus Gaucher | Beta-Glukozerebrosidase | |
| Nieman-Pick | ||
| Krabbe | ||
| Metachromtaicleukodystrophy |
Mukopolysaccharidosen
| MPS I H | Hurler | a-L-Iduronidase |
| MPS I S | Scheie | a-L-Iduronidase |
| MPS I H/S | Hurler-Scheie | a-L-Iduronidase |
| MPS II | Hunter (mild/severe) | Iduronate sulfatase |
| MPS III A | Sanfilippo A | Sulfamidase |
| MPS III B | Sanfilippo B | a-N-Acetylglucosaminidase |
| MPS III C | Sanfilippo C | GAC-acetylase |
| MPS III D | Sanfilippo D | N-Acetylglucosamine 6-sulfatase |
| MPS IV A | Morquio A | N-acetylgalactosamine-6-sulfatase |
| MPS IV A | Morquio B | N-acetylgalactosamine-6-sulfatase |
| MPS VI | Maroteaux-Lamy (mild/severe) | N-Acetylgalactosamine 4-sulfatase |
| MPS VII | Sly | B-Glucoronidase |
| MPS IX | Natowicz |
Mucolipidosen
| Mucolipidose Typ I Sialidose | ||
| Mucolipidose Typ II | I-cell | |
| Mucolipidose Typ III | Pseudo-Hurler | |
| Mucolipidose Typ IV | Sialolipidose |
Obligosaccharidosen
Galactosialidose
Fucosidose Typen
Mannosidose
Aspartlyglucosaminuria
Kakkis, Emil und Wraith Ed. :
Clinical features and diagnosis of the mucopolysaccharidoses.
Sutton Reid V.:
Overview fo the classification of inborn errors of metabolism.