GLA and Fabry disease: After initial clinical descriptions, mutations in the alpha-galactosidase A (AGAL) gene were found to be responsible for Fabry disease, which is an X-linked disorder of glycosphingolipid metabolism that results in progressive accumulation of neutral glycosphingolipids, (predominately globotriaosylceramide; GL-3) in lysosomes, as well as other cellular compartments and the extracellular space [1].