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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.
Fabry disease is a rare genetic disease caused by mutations in the GLA gene, which result in a deficiency of a metabolic enzyme, alpha-galactosidase A. When this enzyme is absent or in low abundance, glycosphingolipid (a type of fat) accumulates within the blood vessels and a number of tissues and organs, leading to impaired function.