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.

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.

Last Updated: 22 Oct 2012

View Details
Logo
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

View Details

 

General Support Organizations

Not finding the support you need? Show General Support Organizations

 
 
Top

How do you compare to others with this condition?

Privately answer questions about your health. Let resources, you select, come to you.

Anonymously share and see how your answers compare with others with this condition while privately providing key pieces of information to medical researchers, disease advocacy groups, and others ONLY YOU select to help speed up cures and better alternatives.

 
 

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

View Details
Logo
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

View Details

 

General Support Organizations

Not finding the support you need? Show General Support Organizations

 
 
 
 
Top

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

Structural Basis of Mucopolysaccharidosis Type II and Construction of a Database of Mutant Iduronate 2-Sulfatases.
 

Author(s): Seiji Saito, Kazuki Ohno, Torayuki Okuyama, Hitoshi Sakuraba

Journal:

 

Mucopolysaccharidosis type II (MPS II, Hunter syndrome) is an X-linked genetic disorder caused by a deficiency of iduronate 2-sulfatase (IDS), and missense mutations comprising about 30% of the mutations responsible for MPS II result in heterogeneous phenotypes ranging from the severe ...

Last Updated: 3 Oct 2016

Go To URL
X-Chromosome Inactivation Analysis in Different Cell Types and Induced Pluripotent Stem Cells Elucidates the Disease Mechanism in a Rare Case of Mucopolysaccharidosis Type II in a Female.
 

Author(s): M Řeboun, J Rybová, R Dobrovolný, J Včelák, T Veselková, G Štorkánová, D Mušálková, M Hřebíček, J Ledvinová, M Magner, J Zeman, K Pešková, L Dvořáková

Journal: Folia Biol. (Praha). 2016 ;62(2):82-9.

 

Mucopolysaccharidosis type II (MPS II) is an X-linked lysosomal storage disorder resulting from deficiency of iduronate-2-sulphatase activity. The disease manifests almost exclusively in males; only 16 symptomatic heterozygote girls have been reported so far. We describe the results ...

Last Updated: 18 May 2016

Go To URL
Severe tracheal and bronchial collapse in adults with type II mucopolysaccharidosis.
 

Author(s): M Rutten, P Ciet, R van den Biggelaar, E Oussoren, J G Langendonk, A T van der Ploeg, M Langeveld

Journal:

 

Mucopolysaccharidosis type II (MPSII) patients frequently suffer from dyspnoea caused by restrictive airway disease due to skeletal abnormalities as well as glycosaminoglycans (GAG) accumulation at different levels of the airway, including the trachea. In this study we describe the ...

Last Updated: 26 Apr 2016

Go To URL

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

[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: 18 Nov 2014

Go To URL
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

Go To URL
[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

Go To URL
 
 
Top

Symptoms, Diagnosis, and Treatment

 
 
Top

Clinical Trial Information This information is provided by ClinicalTrials.gov

A Study of JR-141 in Patients With Mucopolysaccharidosis Type II
 

Status: Recruiting

Condition Summary: Mucopolysaccharidosis II

 

Last Updated: 24 Apr 2017

Go to URL
Safety and Dose Ranging Study of Insulin Receptor MoAb-IDS Fusion Protein in Patients With Hunter Syndrome
 

Status: Recruiting

Condition Summary: Mucopolysaccharidosis II

 

Last Updated: 28 Feb 2017

Go to URL

Last Updated: 19 Jun 2014

Go to URL