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.


Leave a message about 'Fabry Disease'


We do not evaluate or guarantee the accuracy of any content in this site. Click here for the full disclaimer.