| Gaucher Disease | β-glucocerebrosidase deficiency (GBA gene) |
| Fabry Disease | α-galactosidase A deficiency (GLA gene) |
| GM1 Gangliosidosis | β-galactosidase deficiency (GLB1 gene) |
| Tay-Sachs Disease | Hexosaminidase A deficiency (HEXA gene) |
| Pompe Disease | Acid α-glucosidase deficiency (GAA gene) |
| α-Mannosidosis | α-mannosidase deficiency (MAN2B1 gene) |
| β-Mannosidosis | β-mannosidase deficiency (MANBA gene) |
| Fucosidosis | α-fucosidase deficiency (FUCA1 gene) |
| Aspartylglucosaminuria | aspartylglucosaminidase deficiency (AGA gene) |
| Metachromatic Leukodystrophy | Arylsulfatase A deficiency (ARSA gene) |
| Multiple Sulfatase Deficiency | SUMF1 gene deficiency |
| Niemann-Pick Disease Types A/B | Acid sphingomyelinase deficiency (SMPD1 gene) |
| Databases | OMIMOrphanetClinicalTrialsPubMed |
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