Fabry′s disease

Abstract

Fabry′s disease is an X-linked multisystem disorder due to the deficiency of lysosomal enzyme α-galactosidase A, leads to accumulation of sphingolipids throughout the body. Key causes for premature death include cardiac and renal. Here, we present important clinical findings of such rare case.

Keywords

• Cardiac
• cutaneous
• Fabry
• renal