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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 mutation in the HEXA gene. A genetic mutation is a permanent alteration in the DNA sequence that makes up a gene. It causes one or more processes of the body to not work properly. A mutated HEXA gene results in the body not producing an enzyme called Hexosaminidase-A (Hex-A).ay-Sachs disease used to be most common in people of Ashkenazi Jewish descent. Most Jewish people in the UK are Ashkenazi Jews. It's thought that around 1 in 25 Ashkenazi Jewish people are carriers of the mutated gene that causes Tay-Sachs disease.