Fabry disease (FD) is an X-linked lysosomal storage disorder (LSD) caused by mutations in the GLA gene, leading to a deficiency of α-galactosidase A (α-gal A; EC 3.2.1.22) and resulting in the storage of globotriaosylceramide (GL3) and related lipids in the lysosome. This evidence concerns the gene GLA and Fabry disease.