Fabry disease (OMIM #301500) is an X-linked lysosomal storage disorder caused by pathogenic variants in the GLA gene (OMIM #300644; HGNC 4296) encoding the lysosomal enzyme α-galactosidase. Subsequent accumulation of the glycosphingolipid globotriaosylceramide (GL-3) and its derivative globotriaosylsphingosine
(lyso-GL-3) in cells, plasma, and urine causes progressive tissue damage in affected organs, resulting in multisystemic disease, life-threatening complications, and a reduced life expectancy in both males and females.