Review of the use of idursulfase in the treatment of mucopolysaccharidosis II.

Mucopolysaccharidosis type II (MPS II, Hunter syndrome) is a heterogeneous, progressive X-linked recessively inherited lysosomal storage disease that is caused by a deficiency of the enzyme iduronate-2-sulfatase, resulting in abnormal tissue accumulation of the glycosaminoglycans, dermatan sulfate and heparan sulfate. The disorder results from mutations in IDS, which is located at Xq28. Over 300 pathogenic mutations have been identified to date. The management of MPS II requires multidisciplinary care because of the many affected organ systems. Replacement of functional enzyme to involved tissues has been a focus of various therapies for several decades. The transplantation of hematopoietic stem cells provides enzymatic reconstitution in many target tissues, but the clinical response has been disappointing. Recently, enzyme replacement therapy with recombinant human iduronate-2-sulfatase (idursulfase, Elaprase((R)); Shire HGT Pharmaceuticals, Cambridge MA, USA), was approved by the in the US and Europe as a safe and effective treatment for individuals with MPS II. This review presents a comprehensive overview of MPS II and summarizes the recent literature on therapy for the disease.