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.

journal_name

Pediatrics

journal_title

Pediatrics

authors

Martin R,Beck M,Eng C,Giugliani R,Harmatz P,Muñoz V,Muenzer J

doi

10.1542/peds.2007-1350

subject

Has Abstract

pub_date

2008-02-01 00:00:00

pages

e377-86

issue

2

eissn

0031-4005

issn

1098-4275

pii

121/2/e377

journal_volume

121

pub_type

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