GM2 gangliosidosis
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.
MONDO:0017719
gangliosidosis
is_a
MONDO:0024237
inherited neurodegenerative disorder
is_a
GM2-gangliosidosis, B, B1, AB variant
related
GM>2< gangliosidosis
exact
gangliosidosis GM2
exact