GM2 gangliosidosis
ICD-10 Code
E75.0
GM2 gangliosidosis
Definition
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 gangliosidosis GM2, GM>2< gangliosidosis — per MONDO