ea0073oc14.6 | Oral Communications 14: Across Endocrinology | ECE2021
Bothou Christina
, Beuschlein Felix
, Nowak Albina
Fabry Disease (FD) is a rare X–linked metabolic storage disease characterized by a–galactosidase A deficiency and deficient lysosomal function. The patients suffer from diffuse organ manifestations due to the accumulation of the substrate globotriaosylceramide (Gb3), which are only partially reversed by the available enzyme replacement (ERT) therapies. Previous endocrinological studies in patients with FD included small patient numbers or focused on a certain organ...