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Medical terminology · Neurology

Gangliosidoses, GM2

MeSH — National Library of Medicine · Retrieved 2026-10-13

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.

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Reference details

MeSH descriptor
D020143
Vocabulary edition
2026
Tree positions
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

Scope and 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.

Entry terms and synonyms

Gangliosidoses, GM2 Gangliosidose, GM2 GM2 Gangliosidose Gangliosidoses GM2 GM2, Gangliosidoses G(M2) Gangliosidoses GM2 Gangliosidosis Gangliosidosis, GM2 GM2 Gangliosidoses

Classification tree positions

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

Sources and reuse

Medical vocabulary definition and classification record.
Retrieved: 2026-10-13. Text has been organized for reading; this import has not been independently reviewed by a clinician. It is not individualized medical advice.
Courtesy of the U.S. National Library of Medicine. DrugChat is independent and is not endorsed by NLM.

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