Fabry disease

Definition

Fabry disease is a rare genetic lysosomal storage disease caused by a deficiency in α-galactosidase A, an enzyme responsible for degradation of globotriaosylceramide and other glycosphingolipids. Accumulation of these fat molecules in blood vessels throughout the body leads to a wide range of conditions, including renal, cardiac, cerebrovascular and skin disorders.

Latest Research and Reviews

News and Comment