| Mucopolysaccharidoses (MPS) |
| MPS I (Hurler, Hurler-Scheie, Scheie) |
| MPS II (Hunter) |
| MPS III (Sanfillippo) |
| MPS IV (Morquio) |
| MPS VI (Maroteaux-Lamy) |
| MPS VII (Sly) |
| MPS IX (Natowicz) |
| Sphingolipidoses |
| GM1 gangliosidosis |
| GM2 gangliosidosis type 1 (Tay-Sachs) |
| GM2 gangliosidosis type 2 (Sandhoff) |
| Fabry disease |
| Farber disease |
| Gaucher disease |
| Niemann-Pick disease |
| Krabbe disease |
| Metachromatic leukodystrophy |
| Oligosaccharidoses (glycoproteinoses) |
| Galactosialidosis |
| Fucosidosis types |
| Mannosidosis |
| Aspartylglucosaminuria |
| Mucolipidosis |
| Mucolipidosis type I (Sialidosis) |
| Mucolipidosis type II (I-cell)* |
| Mucolipidosis type III (pseudo-Hurler)* |
| Mucolopidosis type IV (Sialolipidosis) |
