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Definitions of Fabrys Disease

  1. Lysosomal storage disease caused by a deficiency of alpha- galactosidase A and resulting in an accumulation of globotriaosylceramide in the renal and cardiovascular systems. The disease is X- linked and is characterized by telangiectatic skin lesions, renal failure, and disturbances of the cardiovascular, gastrointestinal, and central nervous systems.
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