Fabry disease is a rare inherited disorder of glycosphingolipid (fat) metabolism resulting from the absent or markedly deficient activity of the lysosomal enzyme, α-galactosidase A (α-Gal A). This disorder belongs to a group of diseases known as lysosomal storage disorders. Fabry disease is inherited as an X-linked disorder.

There are two major disease phenotypes: type 1 “classic” and type 2 “later-onset” subtypes. Both lead to renal failure, and/or cardiac disease, and early death. Males with the type 1 classic and type 2 later-onset phenotypes are typically significantly more severely affected than their affected female relatives. Females typically have a more variable course and may be asymptomatic or as severely affected as their male relatives.