title: Recognition and diagnosis of mucopolysaccharidosis II (Hunter syndrome).
abstract: Mucopolysaccharidosis II, also known as Hunter syndrome, is a rare, X-linked disorder caused by a deficiency of the lysosomal enzyme iduronate-2-sulfatase, which catalyzes a step in the catabolism of glycosaminoglycans. In patients with mucopolysaccharidosis II, glycosaminoglycans accumulate within tissues and organs, contributing to the signs and symptoms of the disease. Mucopolysaccharidosis II affects multiple organs and physiologic systems and has a variable age of onset and variable rate of progression. Common presenting features include excess urinary glycosaminoglycan excretion, facial dysmorphism, organomegaly, joint stiffness and contractures, pulmonary dysfunction, myocardial enlargement and valvular dysfunction, and neurologic involvement. In patients with neurologic involvement, intelligence is impaired, and death usually occurs in the second decade of life, whereas those patients with minimal or no neurologic involvement may survive into adulthood with normal intellectual development. Enzyme replacement therapy has emerged as a new treatment for mucopolysaccharidosis disorders, including Hunter syndrome. The purpose of this report is to provide a concise review of mucopolysaccharidosis II for practitioners with the hope that such information will help identify affected boys earlier in the course of their disease.
authors.affiliation: Department of Pediatrics, St Louis University, 1465 S Grand Blvd, St Louis, MO 63104, USA. rmarti41@slu.edu
authors.forename: Rick
authors.initials: R
authors.lastname: Martin
authors.forename: Michael
authors.initials: M
authors.lastname: Beck
authors.forename: Christine
authors.initials: C
authors.lastname: Eng
authors.forename: Roberto
authors.initials: R
authors.lastname: Giugliani
authors.forename: Paul
authors.initials: P
authors.lastname: Harmatz
authors.forename: Verónica
authors.initials: V
authors.lastname: Muñoz
authors.forename: Joseph
authors.initials: J
authors.lastname: Muenzer
mesh_terms: D003937:Diagnosis, Differential; D005260:Female; D049673:History, 20th Century; D006801:Humans; D008297:Male; D016532:Mucopolysaccharidosis II / Q000175:diagnosis* / Q000235:genetics / Q000266:history / Q000628:therapy; D010375:Pedigree