Abstract
The Fabry Disease (FD) is a rare pathology caused by variants presents in the GLA gene, localized in the long arm of the X chromosome. Pathogenic variants in this gene lead to low activity in different levels of the enzyme alfa-galactosidase A (±-Gal A), causing an acummulation of the globotriaosylceramide (Gb3) in the lysosomes. This disease presents two phenotype classifications, classi…