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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.
It's about a missing enzyme. Tay-Sachs disease is caused by the absence or significantly reduced level of a vital enzyme called beta-hexosaminidase. It is the Hexosaminidase A (HEXA) gene in the DNA that provides instructions for making this enzyme.