GM2 gangliosidoses

Last revised by Daniel J Bell on 9 Jun 2020

The GM2 gangliosidoses are a small group of three closely-related rare genetic conditions, all due to a deficiency of beta-hexosaminidase, an enzyme vital for the metabolism of GM2 gangliosides in lysosomes, especially important in the brain. The GM2 gangliosidoses form a subgroup of the lysosomal storage diseases.

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