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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.
Albinism. Albinism is a congenital disorder characterized by the complete or partial absence of pigment in the skin, hair and eyes due to absence or defect of tyrosinase, a copper-containing enzyme involved in the production of melanin.