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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.



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View this term at the NCBI website
jenkins-FCD Prod-486 e3098984f26de787f5ecab75090d0a28e7f4f7c0