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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 (the most severe form of Hexosaminidase A deficiency) is a progressive, fatal genetic condition that affects the nerve cells in the brain.ll people have two copies of the Tay-Sachs gene (HEXA). Tay-Sachs occurs when neither of a person's HEXA genes is working properly because of a mutation (harmful change). If a person has one working copy of the HEXA gene and the other copy has a mutation in it, he/she is called a carrier..