Table 2.
Name of Disease | Gene | Enzyme | Affected GSL | MIM Phenotype No. |
---|---|---|---|---|
Spastic Paraplegia (Type 26) | B4GALNT1 | β1,4GalNAc-transferase | GM2, GM1, etc. | 609195 |
West Syndrome | ST3GAL III | α2,3Sialyltransferase 3 | GM1, GD1a, etc. | 615006, 611090 |
Amish Infantile Epilepsy | ST3GAL V | α2,3Sialyltransferase 9 (GM3 synthase) |
LacCer | 609056 |