Abstract
Fabry disease (FD) is an inborn error of metabolism, linked to the X chromosome, with a progressive and inherited character, due to ±-galactosidase A enzyme deficiency, responsible for globotriaosylceramide (Gb3) degradation. Patients with FD show progressive Gb3 storage in lysosomes of endothelium cells, especially in tissues such as kidneys, eyes, skin, heart and brain. From different o…