Endocrine Abstracts

Fabry disease (FD) is an X-linked lysosomal storage disorder originating from mutations in the GLA-gene causing deficiency in alpha-Galactosidase A (GLA) which leads to the accumulation of glycosphingolipids, particularly globotriaosylceramide (Gb3) and globotriaosylsphingosine (Lyso-Gb3). The classic phenotype is characterized by neuropathic pains and pain crises, anhidrosis, abdominal cramping. With advancing age, the disease leads to life-threatening complications such as r...

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...