Fabry disease (FD) is a rare X-linked lysosomal storage disease caused by variants in the GLA gene leading to reduced activity of the encoded lysosomal enzyme alfa-galactosidase A. Consequently, glycosphingolipids (in particular, globotriaosylceramide [Gb3] and globotriaosylsphingosine [lyso-Gb3]) accumulate in lysosomes causing diffuse organ damage. The gene discussed is GLA; the disease is Fabry disease.