GLA and Fabry disease: Fabry disease (FD; Online Mendelian Inheritance in Man® OMIM #301500) is an X-linked, genetic disease due to pathogenic variants in the GLA gene (OMIM #300644; HUGO Gene Nomenclature Committee ID: 4296; NCBI reference sequence: NM_000169.3) (Germain et al., 1996; Germain et al., 2020) encoding the lysosomal α-galactosidase enzyme (α-GAL, UniProt ID: P06280) resulting in its absent or markedly decreased activity in lysosomes.