Mucopolysaccharidosis type II (Hunter syndrome): A clinical review and recommendations for treatment in the era of enzyme replacement therapy

J. Edmond Wraith, Maurizio Scarpa, Michael Beck, Olaf A. Bodamer, Linda De Meirleir, Nathalie Guffon, Allan Meldgaard Lund, Gunilla Malm, Ans T. Van Der Ploeg, Jiri Zeman

Research output: Contribution to journalArticle

265 Citations (Scopus)

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, leading to progressive accumulation of glycosaminoglycans in nearly all cell types, tissues and organs. Clinical manifestations include severe airway obstruction, skeletal deformities, cardiomyopathy and, in most patients, neurological decline. Death usually occurs in the second decade of life, although some patients with less severe disease have survived into their fifth or sixth decade. Until recently, there has been no effective therapy for MPS II, and care has been palliative. Enzyme replacement therapy (ERT) with recombinant human iduronate-2-sulphatase (idursulfase), however, has now been introduced. Weekly intravenous infusions of idursulfase have been shown to improve many of the signs and symptoms and overall wellbeing in patients with MPS II. This paper provides an overview of the clinical manifestations, diagnosis and symptomatic management of patients with MPS II and provides recommendations for the use of ERT. The issue of treating very young patients and those with CNS involvement is also discussed. ERT with idursulfase has the potential to benefit many patients with MPS II, especially if started early in the course of the disease.

Original languageEnglish
Pages (from-to)267-277
Number of pages11
JournalEuropean Journal of Pediatrics
Volume167
Issue number3
DOIs
StatePublished - Mar 1 2008

Fingerprint

Mucopolysaccharidosis II
Enzyme Replacement Therapy
Iduronate Sulfatase
Therapeutics
Deficiency Diseases
Airway Obstruction
Glycosaminoglycans
Cardiomyopathies
Intravenous Infusions
Signs and Symptoms
Enzymes

Keywords

  • Enzyme replacement therapy
  • Hunter syndrome
  • Idursulfase
  • Mucopolysaccharidosis type II
  • Treatment recommendations

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health

Cite this

Mucopolysaccharidosis type II (Hunter syndrome) : A clinical review and recommendations for treatment in the era of enzyme replacement therapy. / Wraith, J. Edmond; Scarpa, Maurizio; Beck, Michael; Bodamer, Olaf A.; De Meirleir, Linda; Guffon, Nathalie; Meldgaard Lund, Allan; Malm, Gunilla; Van Der Ploeg, Ans T.; Zeman, Jiri.

In: European Journal of Pediatrics, Vol. 167, No. 3, 01.03.2008, p. 267-277.

Research output: Contribution to journalArticle

Wraith, JE, Scarpa, M, Beck, M, Bodamer, OA, De Meirleir, L, Guffon, N, Meldgaard Lund, A, Malm, G, Van Der Ploeg, AT & Zeman, J 2008, 'Mucopolysaccharidosis type II (Hunter syndrome): A clinical review and recommendations for treatment in the era of enzyme replacement therapy', European Journal of Pediatrics, vol. 167, no. 3, pp. 267-277. https://doi.org/10.1007/s00431-007-0635-4
Wraith, J. Edmond ; Scarpa, Maurizio ; Beck, Michael ; Bodamer, Olaf A. ; De Meirleir, Linda ; Guffon, Nathalie ; Meldgaard Lund, Allan ; Malm, Gunilla ; Van Der Ploeg, Ans T. ; Zeman, Jiri. / Mucopolysaccharidosis type II (Hunter syndrome) : A clinical review and recommendations for treatment in the era of enzyme replacement therapy. In: European Journal of Pediatrics. 2008 ; Vol. 167, No. 3. pp. 267-277.
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