Mesh term Fabry Disease
Browse to parent terms:Cerebral Small Vessel Diseases
Genetic Diseases, X-Linked
Sphingolipidoses
Description
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.Search for this term in our Faculty Database
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