Decreased corneal opacity and improved vision in a patient with mucopolysaccharidosis I (Hurler-Scheie) treated with enzyme replacement therapy (laronidase, Aldurazyme).

摘要

Mucopolysaccharidosis type I (MPS I) is a reces-sively inherited lysosomal storage disorder caused by deficient activity of alpha-L-iduronidase, an enzyme that cleaves the terminal alpha-L-iduronic acid residues of the glycosaminoglycans heparan sulfate and dermatan sulfate. Patients with MPS I accumulate undegraded glycosaminoglycans in lysosomes throughout the body, resulting in progressive multisystemic tissue and organ dysfunction [Neufeld and Muenzer, 2001]. MPS I encompasses a wide spectrum of clinical severity, which historically has been divided into three general phenotypes. At one extreme, patients with the "Hurler syndrome" experience severe somatic manifestations and cognitive decline beginning in infancy and die of cardiorespiratory failure before age 10. At the other extreme, patients with the "Scheie syndrome" experience progressively debilitating somatic manifestations, including joint stiffness, respiratory disease, and cardiac abnormalities, but have normal cognition and survive until adulthood.