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...