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.
Also Known As:
GM2 Gangliosidosis; Gangliosidoses GM2; Gangliosidoses, GM2; GM2 Gangliosidose; GM2, Gangliosidoses; Gangliosidose, GM2; Gangliosidosis, GM2; G(M2) Gangliosidoses