Chapter 4 - Endocrine, nutritional and metabolic diseases (E00-E89)»Metabolic disorders (E70-E88)»GM2 gangliosidosis, unspecified (E75.00)

E75.00

GM2 gangliosidosis, unspecified

Related indications (MeSH) (1)

Gangliosidoses, GM25 drugs (4 approved, 1 experimental)

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.