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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.
Genetic deficiency of this enzyme activity results in pathologic manifestation of the lysosomal storage disease beta-mannosidosis (OMIM 248510), which is characterized by accumulation and excretion of undegraded storage products containing beta-1,4 linkages.