Definitions for fabry disease

This page provides all possible meanings and translations of the word fabry disease

U.S. National Library of Medicine

  1. Fabry Disease

    An X-linked inherited metabolic disease caused by a deficiency of lysosomal ALPHA-GALACTOSIDASE A. It is characterized by intralysosomal accumulation of globotriaosylceramide and other GLYCOSPHINGOLIPIDS in blood vessels throughout the body leading to multi-system complications including renal, cardiac, cerebrovascular, and skin disorders.


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