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.
Synonyms: GM2 Gangliosidose, G(M2) Gangliosidoses, Gangliosidosis, GM2, GM2 Gangliosidosis, Gangliosidoses GM2, Gangliosidoses, GM2, GM2 Gangliosidoses, Gangliosidose, GM2, GM2, Gangliosidoses
Instance information
comment
2007 (2000) ,2007; see GANGLIOSIDOSES GM2 2000-2006
identifier
D020143