[Genetics of Fabry disease: diagnostic and therapeutic implications].

Abstract excerpt

Fabry disease (FD, OMIM 301500) is an X-linked inborn error of metabolism due to mutations in the gene encoding a-galactosidase A, a lysosomal enzyme. FD is an X-linked disease and affected males are more severely affected than females. In Fabry disease, the penetrance and the severity index of the phenotype are high in males, while expressivity and severity index appears highly variable and often "intermediate"...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to alpha-Galactosidase
• Share to Fabry Disease
• Share to GLA gene