Abstract
Fabry disease (FD) is an inborn error of the metabolism caused by mutations in the GLA gene (GLA; OMIM * 300644), located on the X chromosome. Defects in GLA lead to ±-galactosidase A deficiency (alpha-Gal A; .1.22), responsible for degrading glycosphingolipids, mainly globotriaosylceramide (Gb3). The ± -Gal A is present in all tissues; the deficiency of this enzyme results in a progressi…