General Disease Information
Fabry Disease: General Disease Information
Fabry disease is an inherited Lysosomal Storage Disorder (LSD) caused by deficiency of an enzyme called alpha-galactosidase A (alpha-Gal A). The function of alpha-Gal A is to degrade glycosphingolipids, or sugary-fat material, in lysosomes, including globotriaosylceramide (GL-3, also known as Gb3). Progressive accumulation of GL-3 is believed to lead to the morbidity and mortality of Fabry disease, including pain, kidney failure, heart disease, and stroke.