GLA and Fabry disease: Fabry disease (FD) is a rare X-linked genetic lysosomal storage disorder caused by mutations in the α-galactosidase A (GLA) gene, resulting in deficiency of alpha-galactosidase A (α-Gal A) activity, leading to the progressive accumulation of glycosphingolipids, including the metabolic substrate globotriaosylceramide (GL-3) and globotriaosyl-sphingosine (Lyso-GL-3) in multiple organs.