B variant of the hexosaminidase gm2 gangliosidosis

An autosomal recessive lysosomal storage disease caused by mutation(s) in the GM2A gene, encoding ganglioside GM2 activator. It is characterized by GM2-ganglioside accumulation in tissues resulting in hypotonia, cherry-red macular spots, and neurocognitive dysfunction.

Disease Alternative Name

tay-sachs disease
ab variant

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