GLA and Fabry disease: Fabry disease (OMIM #301500) is caused by mutations in the gene encoding alpha-galactosidase A (GLA) on chromosome Xq22, which leads to the systemic accumulation of globotriaoslyceramide (Gb3) (Table 1) and related glycosphingolipids in body fluids and affected tissues (37), mainly brain, heart, and kidney.