Tay-sachs disease, ab variant
Tay-sachs disease, ab variant - 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.
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Contributors: Prab R. Tumpati, MD
