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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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.

Last Updated: 22 Oct 2012

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Pediatric Brain Foundation

Pediatric Brain Foundation's Mission is Three-fold: 1. Expedite scientific research to find treatments and cures for ALL of the more than 14 million children, in the U.S. alone, living with some form of neurological disorder 2. Provide families and health care professionals with up-to-date information and resources on the latest discoveries in pediatric neurology 3. Educate the public and public officials on the critical importance of funding pediatric neurological research

Last Updated: 22 Apr 2015

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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
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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Pediatric Brain Foundation

Pediatric Brain Foundation's Mission is Three-fold: 1. Expedite scientific research to find treatments and cures for ALL of the more than 14 million children, in the U.S. alone, living with some form of neurological disorder 2. Provide families and health care professionals with up-to-date information and resources on the latest discoveries in pediatric neurology 3. Educate the public and public officials on the critical importance of funding pediatric neurological research

http://www.pediatricbrainfoundation.org

Last Updated: 22 Apr 2015

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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 37 free, full-text research articles on human participants. First 3 results:

Clinical outcomes in idursulfase-treated patients with mucopolysaccharidosis type II: 3-year data from the hunter outcome survey (HOS).
 

Author(s): Joseph Muenzer, Roberto Giugliani, Maurizio Scarpa, Anna Tylki-Szymańska, Virginie Jego, Michael Beck

Journal:

 

Mucopolysaccharidosis type II (MPS II; Hunter syndrome) is a rare, X-linked disorder caused by deficient activity of the enzyme iduronate-2-sulfatase (I2S). Treatment is available in the form of enzyme replacement therapy (ERT) with recombinant I2S. Clinical outcomes following ≥3 years ...

Last Updated: 31 Dec 1969

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Clinical, biochemical and molecular characteristics of Filipino patients with mucopolysaccharidosis type II - Hunter syndrome.
 

Author(s): Mary Anne D Chiong, Daffodil M Canson, Mary Ann R Abacan, Melissa Mae P Baluyot, Cynthia P Cordero, Catherine Lynn T Silao

Journal:

 

Mucopolysaccharidosis type II, an X-linked recessive disorder is the most common lysosomal storage disease detected among Filipinos. This is a case series involving 23 male Filipino patients confirmed to have Hunter syndrome. The clinical and biochemical characteristics were obtained ...

Last Updated: 31 Dec 1969

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Generation of human induced pluripotent stem cell (iPSC) line from an unaffected female carrier of Mucopolysaccharidosis type II (MPS II) disorder.
 

Author(s): Eszter Varga, Csilla Nemes, Eszter Kovács, István Bock, Norbert Varga, Anita Fehér, András Dinnyés, Julianna Kobolák

Journal: Stem Cell Res. 2016 11;17(3):514-516.

 

Peripheral blood was collected from a 39-year-old unaffected female carrier of an X-linked recessive mutation of Iduronate 2-sulfatase gene (NM_000202.7(IDS):c.85C>T) causing MPS II (OMIM 309900). Peripheral blood mononuclear cells (PBMCs) were reprogrammed by lentiviral delivery ...

Last Updated: 31 Dec 1969

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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 4 free, full-text review articles on human participants. First 3 results:

Development of idursulfase therapy for mucopolysaccharidosis type II (Hunter syndrome): the past, the present and the future.
 

Author(s): David Ah Whiteman, Alan Kimura

Journal:

 

Mucopolysaccharidosis type II (MPS II; Hunter syndrome; OMIM 309900) is a rare, multisystemic, progressive lysosomal storage disease caused by deficient activity of the iduronate-2-sulfatase (I2S) enzyme. Accumulation of the glycosaminoglycans dermatan sulfate and heparan sulfate ...

Last Updated: 31 Dec 1969

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[Efficacy and safety of idursulfase therapy in patients with mucopolysaccharidosis type II with and without comparison to placebo: systematic review and meta-analysis].
 

Author(s): Taciane Alegra, Dauana Pitano Eizerik, Caio César Silva de Cerqueira, Tiago V Pereira, Alícia Dorneles Dornelles, Ida Vanessa Doederlein Schwartz

Journal: Cad Saude Publica. 2013 Nov;29 Suppl 1():S45-58.

 

Mucopolysaccharidosis type II (MPS II) is a genetic disease of broad clinical spectrum, characterized by a deficiency of the enzyme iduronate2-sulfatase. The aim of this study was to assess whether enzyme replacement therapy (ERT) with idursulfase (IDS) for MPS II is effective and ...

Last Updated: 31 Dec 1969

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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: 31 Dec 1969

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Symptoms, Diagnosis, and Treatment

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

RGX-121 Gene Therapy in Patients With MPS II (Hunter Syndrome)
 

Status: Recruiting

Condition Summary: Mucopolysaccharidosis Type II (MPS II)

 

Last Updated: 11 Jul 2018

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Mucopolysaccharidosis Type II Natural History
 

Status: Recruiting

Condition Summary: Mucopolysaccharidosis II

 

Last Updated: 9 Aug 2018

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Last Updated: 19 Jun 2014

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