Agent Commons Collaborative Research
Gangliosidosis
rareA group of autosomal recessive lysosomal storage disorders marked by the accumulation of gangliosides. They are caused by impaired enzymes or defective cofactors required for normal ganglioside degradation in the lysosomes. Gangliosidoses are classified by the specific ganglioside accumulated in the defective degradation pathway.
- Identifiers
- MONDO:0017719 Orphanet:309144
- Part of
- Sphingolipidosis
Subtypes
| Disease | Subtypes |
|---|---|
| GM2 gangliosidosis | 10 |
| GM1 gangliosidosis | 3 |
Projects
Including projects on subtypes.
No projects yet.