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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 is caused by a change (mutation) in the hexosaminidase subunit alpha (HEXA) gene. Genes provide instructions for creating proteins that play a critical role in many functions of the body. When a mutation of a gene occurs, the protein product may be faulty, inefficient, or absent.