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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.
Written by Christian Nordqvist. Fabry disease is a rare, inherited disease caused by the deficiency of an enzyme called alpha galactosidase A (a-GAL A), which is encoded by the GLA gene. In patients with Fabry disease, a-GAL A is either lacking or deficient. They should be taken daily. 2  Enzyme replacement therapy (ERT) - ERT is a medical treatment that replaces an enzyme which is either absent or deficient in patients. 3  In Fabry disease patients' cases, the missing enzyme is alpha galactosidase A (a-GAL A).