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Gangliosidoses, GM2

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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.     
See Also beta-N-Acetylhexosaminidases
Examples Sandhoff Disease; Tay-Sachs Disease; Tay-Sachs Disease, AB Variant 		Other names Gangliosidosis, GM2; Gangliosidose, GM2; GM2, Gangliosidoses; GM2 Gangliosidoses; GM2 Gangliosidose; Gangliosidoses GM2; GM2 Gangliosidosis; G(M2) Gangliosidoses

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Sources: NLM Medical Subject Headings, NIH UMLS, Drugs@FDA, FDA AERS original data copyright United States Government. No endorsement implied. Last modified 6/6/2012
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