Agent Commons Collaborative Research

GM2 gangliosidosis

rare

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.

Identifiers
MONDO:0017720 Orphanet:309152
Part of
GangliosidosisInherited neurodegenerative disorder
Also known as
gangliosidosis GM2 · GM2-gangliosidosis, B, B1, AB variant · GM>2< gangliosidosis

Subtypes

All diseases Rare only

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