Fabry disease (FD; OMIM: 301500) is an X-linked lysosomal storage disorder caused by deficiency of the alpha galactosidase A enzyme, resulting in accumulation of glycosphingolipids, particularly globotriaosylceramide (GL-3, Gb3, CTH) and globotriaosylsphingosine (Lyso-GL-3, lyso-Gb3)1. The gene discussed is GLA; the disease is Fabry disease.