Idursulfase: enzyme replacement therapy for mucopolysaccharidosis Type II (Hunter syndrome)
Author: McBride, Kim L
Source: Expert Review of Endocrinology and Metabolism, Volume 2, Number 1, January 2007 , pp. 19-26(8)
Publisher: Expert Reviews
Abstract:
Mucopolysaccharidosis type II (Hunter syndrome) is a lysosomal storage disorder caused by deficiency of iduronate-2-sulfatase leading to tissue accumulation of glycosaminoglycans. It manifests with short stature, joint stiffness, coarse facial features, hepatosplenomegaly, and progressive mental retardation. Most children die in the first or second decade from pulmonary or cardiac involvement. Until recently, no specific treatment was available. A Phase II/III trial of idursulfase, a recombinant enzyme replacement therapy for this disorder, demonstrated significant improvement in a 6-min walk test and in pulmonary function tests, and a decrease in liver and spleen size among those receiving active therapy once weekly. Major side effects include allergic reactions, which generally are easily managed and do not require discontinuing therapy. Idursulfase is now approved in the US, and should provide significant improvement in quality of life for these individuals. This article reviews the disease and treatment, with comments on future therapeutic directions.Keywords: genetics; inborn errors of metabolism; lysosomal storage disease; orphan drug; pharmacology; therapeutics
Document Type: Research article
DOI: http://dx.doi.org/10.1586/17446651.2.1.19
Publication date: 2007-01-01
- Expert Review of Endocrinology & Metabolism provides extensive coverage of state-of-the-art research and clinical advancements in the field of endocrine control and metabolism, with a focus on screening, prevention, diagnostics, existing and novel therapeutics, as well as related molecular genetics, pathophysiology and epidemiology
- Editorial Board
- Information for Authors
- Submit a Paper
- Subscribe to this Title
- Information for Advertisers
- Terms & Conditions
- Information for Librarians
- Free Trials
- ingentaconnect is not responsible for the content or availability of external websites
- In this: publication
- By this: publisher
- In this Subject: Medicine , Medicine (General)
- By this author: McBride, Kim L

Shopping cart
Receive new issue alert
Get Permissions