Mucopolysaccharidosis type VI

Common Name(s)

Mucopolysaccharidosis type VI

Mucopolysaccharidosis type VI is an autosomal recessive lysosomal storage disorder resulting from a deficiency of arylsulfatase B. Clinical features and severity are variable, but usually include short stature, hepatosplenomegaly, dysostosis multiplex, stiff joints, corneal clouding, cardiac abnormalities, and facial dysmorphism. Intelligence is usually normal ({2:Azevedo et al., 2004}).
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Mucopolysaccharidosis type VI" 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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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Mucopolysaccharidosis type VI" 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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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 VI" returned 19 free, full-text research articles on human participants. First 3 results:

Illness perception and clinical treatment experiences in patients with M. Maroteaux-Lamy (mucopolysaccharidosis type VI) and a Turkish migration background in Germany.
 

Author(s): Hansjörg Dilger, Linn Leissner, Lenka Bosanska, Christina Lampe, Ursula Plöckinger

Journal:

 

Mucopolysaccharidosis VI (MPS VI) is an inherited lysosomal storage disease caused by a mutation of the gene for arylsulfatase B (ASB). Of the thirty-one patients registered in Germany, almost fifty percent have a Turkish migration background. MPS VI is treated by enzyme replacement ...

Last Updated: 4 Jul 2013

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Identification of a novel arylsulfatase B gene mutation in three unrelated Iranian mucopolysaccharidosis type-VI patients with different phenotype severity.
 

Author(s): Nayerossadat Nouri, Nargesossadat Nouri, Omid Aryani, Behnam Kamalidehghan, Massoud Houshmand

Journal: Iran. Biomed. J.. 2012 ;16(3):169-71.

 

Mucopolysaccharidosis type-VI (MPS-VI), which is inherited as an autosomal recessive trait, results from the deficiency of N-acetylgalactosamine 4-sulfatase (arylsulfatase B) activity and the lysosomal accumulation of dermatan sulfate. In this study, ARSB mutation analysis was performed ...

Last Updated: 1 Oct 2012

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Anti-TNF-alpha therapy enhances the effects of enzyme replacement therapy in rats with mucopolysaccharidosis type VI.
 

Author(s): Efrat Eliyahu, Theodore Wolfson, Yi Ge, Karl J Jepsen, Edward H Schuchman, Calogera M Simonaro

Journal: PLoS ONE. 2011 ;6(8):e22447.

 

Although enzyme replacement therapy (ERT) is available for several lysosomal storage disorders, the benefit of this treatment to the skeletal system is very limited. Our previous work has shown the importance of the Toll-like receptor 4/TNF-alpha inflammatory pathway in the skeletal ...

Last Updated: 2 Sep 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 VI" returned 0 free, full-text review articles on human participants.

 
 
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Symptoms, Diagnosis, and Treatment

There are currently no related results available in GeneReviews.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

Naglazyme After Allo Transplant for Maroteaux-Lamy Syndrome
 

Status: Not yet recruiting

Condition Summary: Maroteaux-Lamy Syndrome

 

Last Updated: 3 Jun 2014

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Biomarker for Maroteaux-Lamy Disease
 

Status: Recruiting

Condition Summary: Maroteaux-lamy Disease; Lysosomal Storage Diseases

 

Last Updated: 3 Jun 2014

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Longitudinal Studies of Brain Structure and Function in MPS Disorders
 

Status: Recruiting

Condition Summary: Mucopolysaccharidosis Type I; Mucopolysaccharidosis Type II; Mucopolysaccharidosis Type VI

 

Last Updated: 21 Apr 2014

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