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Tay-Sachs disease An inherited condition characterized by the absence of a single lysosomal enzyme called Hex A, which normally breaks down a membrane glycolipid called ganglioside G_M2 that is especially prevalent in nerve cells; usually occurs in children of Ashkenazi (eastern European Jewish) descent and is characterized by seizures and muscle rigidity.
Tay-Sachs disease-caused by mutations in the HEXA gene. More than 120 mutations that cause Tay-Sachs disease have been identified in the HEXA gene.These mutations reduce or eliminate the activity of the enzyme beta-hexosaminidase A, which prevents the enzyme from breaking down GM2 ganglioside.ay-Sachs disease-caused by mutations in the HEXA gene. More than 120 mutations that cause Tay-Sachs disease have been identified in the HEXA gene.