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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.
Mutations in the Tay-Sachs Chromosome. Tay-Sachs disease is caused by mutations in the HEXA gene. More than 95 mutations that cause the disease have been identified.These mutations reduce or eliminate the activity of the enzyme beta-hexosaminidase A, preventing the normal breakdown of GM2 ganglioside in the brain and spinal cord.he Tay-Sachs chromosome is located on chromosome number 15, and is also known as the hexosaminidase A (or HEXA) gene.