A late-onset male Fabry disease patient with somatic mosaicism of a classical GLA mutation: a case report.

Abstract excerpt

Fabry disease (FD) is an X-linked lysosomal storage disorder caused by mutations in the α-galactosidase A gene (GLA). Male patients of FD develop early sign and symptoms in childhood or adolescence. However, "de novo somatic mosaicism" is rare and might be developed a relatively mild phenotype despite carrying a classic type. A 34-year-old male patient visited with foamy urine. Renal biopsy findings were...

Topics

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

• Share to Fabry Disease
• Share to Galactosidases
• Share to Mosaicism