Spain Deutschland France Italia Nederland United Kingdom USA (Headquarters) Programs Management team Career opportunities Transparency Contact Our programs Amicus Therapeutics (Nasdaq: FOLD) is a biotechnology company at the forefront of developing advanced therapies for a group of rare and devastating diseases. The company develops a line of novel and first-line treatments for a variety of human genetic diseases. LYSOSOMAL DEPOSIT DISEASES Lysosomal storage diseases are caused by mutations that alter the endogenous enzymes of the patient, which can cause a decrease in their stability and even an incorrect enzymatic folding. The deficient activity of the enzyme produces the progressive accumulation of the substrate in the lysosomes of different cells and tissues of the body. FABRY'S DISEASE Fabry disease is an inherited lysosomal storage disease caused by a deficiency of an enzyme called α-galactosidase A (α-Gal A). The function of α-Gal A is to degrade glycosphingolipids, in lysosomes, including globotriaosylceramide (GL-3, also known as Gb3). The progressive accumulation of GL-3 is believed to be what causes the morbidity and mortality associated with Fabry disease, including pain, kidney failure, heart disease, and stroke. Only for healthcare professionals: Access to the Technical Data Sheet PUMP'S DISEASE La enfermedad de Pompe es una enfermedades de depósito lisosomal hereditaria causada por la deficiencia de una enzima llamada α-glucosidasa ácida (GAA). Los niveles disminuidos o ausentes de la GAA causan la acumulación del sustrato glucógeno en los lisosomas de varias células del cuerpo. Se cree que la acumulación progresiva de glucógeno es lo que causa la morbilidad y mortalidad asociadas con la enfermedad de Pompe, incluidas debilidad muscular e insuficiencia respiratoria. EPIDERMOLISIS BULLOSA Epidermolysis bullosa (EB) is a rare genetic disease that manifests itself with the appearance of vesicles or abrasion of the skin and, in some cases, of the epithelial mucosa of other organs. EB is chronic, debilitating, and can be disfiguring and life-threatening. Currently, there is no approved treatment for EB. Amicus is committed to addressing this important, yet unmet need. Learn more about our programs Copyright © 2016 Amicus Therapeutics, Inc. All rights reserved. terms of use Privacy Policy