Mucopolysaccharidosis type II

Common Name(s)

Mucopolysaccharidosis type II, Hunter Syndrome

Mucopolysaccharidosis II (MPS II), also commonly known as Hunter syndrome, is a condition that occurs almost exclusively in males. Affected individuals typically have distinctive facial features, a large head, hydrocephalus, an enlarged liver and spleen, umbilical or inguinal hernia, and hearing loss. Individuals with this condition may have joint deformities and heart valve problems. MPS II is caused by mutations in the IDS gene.

There are two types of MPS II, called the severe and attenuated types. While both types affect many different parts of the body, people with the severe type also experience a decline in intellectual function and a more rapid disease progression. The life expectancy for people with the severe type is 10 to 20 years. Individuals with the attenuated type typically live into adulthood and their intelligence is not affected. Heart disease and airway obstruction are major causes of death in people with both types of MPS II.
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Mucopolysaccharidosis type II" for support, advocacy or research.

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CNS Foundation

CNS Foundation's Mission is Three-fold: - Expedite scientific research to find treatments and cures for the more than 14 million children living with some form of neurological disorder - Provide families and health care professionals with up-to-date information and resources on the latest discoveries in pediatric neurology - Educate the public, and public officials, on the critical importance of funding pediatric neurological disorder research

http://www.cnsfoundation.org

Last Updated: 12 Oct 2013

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National MPS Society

The National MPS Society exists to find cures for MPS and related diseases. We provide hope and support for affected individuals and their families through research, advocacy and awareness of these devastating diseases.

http://www.mpssociety.org

Last Updated: 22 Oct 2012

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General Support Organizations

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Mucopolysaccharidosis type II" for support, advocacy or research.

Logo
CNS Foundation

CNS Foundation's Mission is Three-fold: - Expedite scientific research to find treatments and cures for the more than 14 million children living with some form of neurological disorder - Provide families and health care professionals with up-to-date information and resources on the latest discoveries in pediatric neurology - Educate the public, and public officials, on the critical importance of funding pediatric neurological disorder research

http://www.cnsfoundation.org

Last Updated: 12 Oct 2013

View Details
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National MPS Society

The National MPS Society exists to find cures for MPS and related diseases. We provide hope and support for affected individuals and their families through research, advocacy and awareness of these devastating diseases.

http://www.mpssociety.org

Last Updated: 22 Oct 2012

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General Support Organizations

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Mucopolysaccharidosis type II" returned 16 free, full-text research articles on human participants. First 3 results:

Successful desensitization to idursulfase in a patient with type II mucopolysaccharidosis (Hunter syndrome).
 

Author(s): C D Serrano, J F Gomez

Journal: J Investig Allergol Clin Immunol. 2011 ;21(7):571-2.

 

Last Updated: 8 Feb 2012

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Mucopolysaccharidosis type II: European recommendations for the diagnosis and multidisciplinary management of a rare disease.
 

Author(s): Maurizio Scarpa, Zsuzsanna Almássy, Michael Beck, Olaf Bodamer, Iain A Bruce, Linda De Meirleir, Nathalie Guffon, Encarna Guillén-Navarro, Pauline Hensman, Simon Jones, Wolfgang Kamin, Christoph Kampmann, Christina Lampe, Christine A Lavery, Elisa Leão Teles, Bianca Link, Allan M Lund, Gunilla Malm, Susanne Pitz, Michael Rothera, Catherine Stewart, Anna Tylki-Szymańska, Ans van der Ploeg, Robert Walker, Jiri Zeman, James E Wraith,

Journal:

 

Mucopolysaccharidosis type II (MPS II) is a rare, life-limiting, X-linked recessive disease characterised by deficiency of the lysosomal enzyme iduronate-2-sulfatase. Consequent accumulation of glycosaminoglycans leads to pathological changes in multiple body systems. Age at onset, ...

Last Updated: 25 Nov 2011

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Clinical utility gene card for: mucopolysaccharidosis type II.
 

Author(s): Michael Beck, Frits A Wijburg, Andreas Gal

Journal: Eur. J. Hum. Genet.. 2012 Jan;20(1):.

 

Last Updated: 13 Dec 2011

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Mucopolysaccharidosis type II" returned 2 free, full-text review articles on human participants. First 3 results:

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

Author(s): 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

Journal: Eur. J. Pediatr.. 2008 Mar;167(3):267-77.

 

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 ...

Last Updated: 8 Feb 2008

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[Clinical aspects of mucopolysaccharidosis type II].
 

Author(s): P Sanjurjo-Crespo

Journal: Rev Neurol. 2007 Feb;44 Suppl 1():S3-6.

 

To review the clinical and diagnostic aspects of mucopolysaccharidosis type II (Hunter syndrome).

Last Updated: 8 Mar 2007

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Clinical Trial Information This information is provided by ClinicalTrials.gov

Observational Study to Evaluate Neurodevelopmental Status in Pediatric Patients With Hunter Syndrome (MPS II)
 

Status: Recruiting

Condition Summary: Mucopolysaccharidosis II; MPS II; Hunter Syndrome

 

Last Updated: 6 Mar 2014

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Lysosomal Storage Disease: Health, Development, and Functional Outcome Surveillance in Preschool Children
 

Status: Recruiting

Condition Summary: Mucopolysaccharidosis Type I (MPS I); Mucopolysaccharidosis Type II (MPS II); Mucopolysaccharidosis Type III (MPS III); Mucopolysaccharidosis Type VI (MPS VI); Krabbe Disease

 

Last Updated: 4 Sep 2013

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The Long-term Safety Study of Idursulfase-beta in Hunter Syndrome(Mucopolysaccharidosis II) Patients
 

Status: Not yet recruiting

Condition Summary: Hunter Syndrome

 

Last Updated: 22 Jan 2014

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