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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.
Whatâs Missing Historically, lysosomal storage disorders have been described as a group of disorders caused by missing enzymes. This description suggests that enzyme is missing from the body completely. While some individuals with lysosomal storage disorders do not make any enzyme, many individuals do make enzyme.