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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.
There are over 600 mutations in the GLA gene that is responsible for Fabry disease, thus, the severity and range of symptoms may vary among individuals. Absent enzyme activity results in the classic subtype, while patients with the later-onset subtype have residual enzyme activity.abry disease is a rare genetic disorder of fat (lipid) metabolism characterized by a deficiency of the enzyme alpha-galactosidase A (previously known as ceramide trihexosidase).