GLA and Fabry disease: Fabry disease (FD) is a rare X-linked congenital metabolic disorder caused by mutations in the alpha-galactosidase A gene, which encodes the lysosomal enzyme α-galactosidase A. These mutations result in deficient enzymatic activity, resulting in the systemic accumulation of globotriaosylceramide (Gb3), which is a substrate of α-galactosidase A, in various tissues.