drbilalzafarover 5 years ago

Hurler Syndrome

Hurler syndrome, also known as mucopolysaccharidosis type IH (MPS IH), Hurler's disease and formerly gargoylism, is a genetic disorderthat results in the buildup of glycosaminoglycans (AKA GAGs, or mucopolysaccharides) due to a deficiency of alpha-L iduronidase, an enzyme responsible for the degradation of GAGs in lysosomes. Without this enzyme, a buildup of dermatan sulfate and heparan sulfate occurs in the body. Symptoms appear during childhood, and early death can occur due to organ damage.