| Syndrome | Enzyme defect and gene |
| Mucolipidoses Type II (I cell) and Type III (pseudo Hurler) | |
| MPS Type I (Hurler) | |
| MPS Type II (Hunter) | |
| MPS Type IIIA (Sanfilippo) | |
| MPS Type IIIB (Sanfilippo) | |
| MPS Type IIIC (Sanfilippo) | |
| MPS Type IIID (Sanfilippo) | |
| MPS Type VII (Sly) | |
| Tay-Sachs | |
| Fabry | |
| Gaucher Type IA | |