Gangliosidoses, GM2

**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.

**Tree numbers:** - C10.228.140.163.100.435.825.300.300 - C16.320.565.189.435.825.300.300 - C16.320.565.398.641.803.350.300 - C16.320.565.595.554.825.300.300 - C18.452.132.100.435.825.300.300 - C18.452.584.563.641.803.350.300 - C18.452.648.189.435.825.300.300 - C18.452.648.398.641.803.350.300 - C18.452.648.595.554.825.300.300

**Synonyms:** - Gangliosidoses GM2 - G(M2) Gangliosidoses - GM2 Gangliosidosis