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Gangliosidoses, GM2

A group of recessively inherited diseases characterized by the intralysosomal accumulation of G(M2) GANGLIOSIDE in the neuronal cells. Subtypes include mutations of enzymes in the BETA-N-ACETYLHEXOSAMINIDASES system or G(M2) ACTIVATOR PROTEIN leading to disruption of normal degradation of GANGLIOSIDES, a subclass of ACIDIC GLYCOSPHINGOLIPIDS.

Subtype terms (3)

More specific conditions that are subtypes of Gangliosidoses, GM2 in the MeSH hierarchy.

Drugs by status

Phase 4 trials (1)

Organizations

ICD-10 crosswalk