Fabry disease is a lysosomal storage disorder, meaning that a glycosphingolipid called GL-3 accumulates in the lysosomes, causing tissue damage; many cell types are affected.1
The disease is caused by mutations in the GLA gene, resulting in nonfunctional or dysfunctional alpha-galactosidase A, a lysosomal enzyme. The mutations can be inherited, so multiple family members can have the disease.1
- Wanner C, et al. Mol Genet Metab 2018;124(3):189-203.
- Cairns T, et al. Postgrad Med J 2018;94(1118):709-713.