Fabry’s disease is a genetic, congenital, X-linked disorder of glycosphingolipid metabolism that is progressive, destructive, and potentially fatal.

Internationally, among males, the incidence of Fabry’s disease is 1:40,000 to 1:60,000. Among all live births it is 1:80,000 to 1:117,000. Because Fabry’s disease is an X-linked inherited disease, it is males who are affected almost exclusively.

Alpha-galactosidase A (α-GAL A) deficiency results from an abnormality on the long arm of the X chromosome, specifically Xq22.