Fabry disease is a rare lysosomal storage disorder resulting from loss-of-function mutations in GLA, the gene encoding lysosomal enzyme alpha-galactosidase A (α-Gal A).65 This leads to elevated levels of two non-degraded glycosphingolipids—globotriaosylceramide (Gb3) and globotriaosylsphingosine (lyso-Gb3)—in the kidney, heart and skin. The gene discussed is GLA; the disease is Fabry disease.