Fabry disease is a rare, X-linked, lysosomal storage disease (OMIM #301500) caused by mutations in the gene encoding the acid hydrolase enzyme alpha-galactosidase A (EC 3.2.1.22), which catalyses removal of a galactose moiety from neutral sphyngolipids, predominantly globotriaosylceramide (Gb3). The gene discussed is GLA; the disease is Fabry disease.