Spain Deutschland France Italia Nederland United Kingdom Canada 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 Pompe disease is an inherited lysosomal storage disease caused by a deficiency of an enzyme called acid α-glucosidase (GAA). Decreased or absent levels of GAA cause the accumulation of the glycogen substrate in the lysosomes of various cells in the body. It is believed that the progressive accumulation of glycogen is what causes the morbidity and mortality associated with Pompe disease, including muscle weakness and respiratory failure. Learn more about our programs Copyright © 2016 Amicus Therapeutics, Inc. All rights reserved. terms of use Privacy Policy