Enzyme replacement therapy with idursulfase in patients with mucopolysaccharidosis type II
- 13 March 2008
- journal article
- review article
- Published by Wiley in Acta Paediatrica
- Vol. 97 (s457), 76-78
- https://doi.org/10.1111/j.1651-2227.2008.00661.x
Abstract
Mucopolysaccharidosis type II (MPS II; Hunter syndrome) is a rare X-linked recessive disease caused by deficiency of the lysosomal enzyme iduronate-2-sulphatase. This leads to the progressive accumulation of glycosaminoglycans in tissues throughout the body. As a result, patients may suffer from severe airway obstruction, skeletal deformities, cardiomyopathy and, in severely affected patients, there may be progressive neurological decline. Despite the early onset of signs and symptoms, diagnosis is often delayed. Until recently, treatment for MPS II has been largely palliative; however, enzyme replacement therapy with recombinant iduronate-2-sulphatase, which is produced in a human cell line and targets the underlying cause of the disease, has now been approved. This short review provides an overview of the natural history of MPS II and current experience of enzyme replacement therapy with idursulfase.Keywords
This publication has 13 references indexed in Scilit:
- Preclinical dose ranging studies for enzyme replacement therapy with idursulfase in a knock-out mouse model of MPS IIMolecular Genetics and Metabolism, 2007
- A clinical study of 77 patients with mucopolysaccharidosis type IIActa Paediatrica, 2007
- A phase I/II clinical trial of enzyme replacement therapy in mucopolysaccharidosis II (Hunter syndrome)Molecular Genetics and Metabolism, 2007
- A phase II/III clinical study of enzyme replacement therapy with idursulfase in mucopolysaccharidosis II (Hunter syndrome)Genetics in Medicine, 2006
- Cumulative incidence rates of the mucopolysaccharidoses in GermanyJournal of Inherited Metabolic Disease, 2005
- Cardiovascular changes in mucopolysaccharidoses in TaiwanActa Cardiologica, 2005
- Enzyme replacement therapy in mucopolysaccharidosis type II (Hunter syndrome): a preliminary reportActa Paediatrica, 2002
- The frequency of lysosomal storage diseases in The NetherlandsHuman Genetics, 1999
- The frequency of lysosomal storage diseases in The NetherlandsHuman Genetics, 1999
- A clinical and genetic study of Hunter's syndrome. 1 HeterogeneityJournal of Medical Genetics, 1982