In Fabry disease (FD, OMIM #301500), mutations in the GLA gene (Xq22.1 300,644) lead to a defect in alpha-galactosidase A with a subsequent accumulation of glycosphingolipids, notably globotriaosylceramide (Gb3) and globotriaosylsphingosine (lysoGb3). The gene discussed is GLA; the disease is Fabry disease.