GLA and Fabry disease: Fabry disease (FD; OMIM #301500) is a rare X‐linked inborn error of glycosphingolipid metabolism, caused by pathogenic variants in the GLA gene (Gene Entrez: 2717; NCBI reference sequence: NM_000169.3; OMIM #300644; Locus Reference Genomic record LRG_672), which encodes the lysosomal enzyme α‐galactosidase A (α‐Gal A, EC 3.2.1.22; Uniprot P06280).