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.

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

 

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 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

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 VI" returned 21 free, full-text research articles on human participants. First 3 results:

Deletion of exon 4 in the N-acetylgalactosamine-4-sulfatase gene in a Taiwanese patient with mucopolysaccharidosis type VI.
 

Author(s): Wei-De Lin, Yu-Yuan Ke, I-Ching Chou, Chung-Hsing Wang, Fuu-Jen Tsai

Journal: Tohoku J. Exp. Med.. 2015 ;235(4):267-73.

 

Mucopolysaccharidosis type VI (MPS VI) is a rare autosomal recessive disorder caused by a deficiency of N-acetylgalactosamine-4-sulfatase (ARSB), one of the enzymes required for the degradation of dermatan sulfate (DS). Accumulation of DS in connective tissue causes growth failure, ...

Last Updated: 23 Mar 2015

Go To URL
Mucopolysaccharidosis type VI (Maroteaux-Lamy syndrome) in the pre-Columbian culture of Colombia.
 

Author(s): Harry Pachajoa, Carlos Armando Rodriguez

Journal:

 

Mucopolysaccharidosis type VI or Maroteaux Lamy syndrome is an autosomal recessive lysosomal storage disorder resulting from a deficiency of arylsulfatase B, the clinical features include short stature, hepatosplenomegaly, dysostosis multiplex, stiff joints, corneal clouding, cardiac ...

Last Updated: 7 Aug 2014

Go To URL
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

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 VI" returned 1 free, full-text review articles on human participants. First 3 results:

Attenuated osteoarticular phenotype of type VI mucopolysaccharidosis: a report of four patients and a review of the literature.
 

Author(s): Agnieszka Jurecka, Ekaterina Zakharova, Vera Malinova, Elena Voskoboeva, Anna Tylki-Szymańska

Journal: Clin. Rheumatol.. 2014 May;33(5):725-31.

 

Mucopolysaccharidosis type VI (Maroteaux-Lamy syndrome, MPS VI, OMIM 253200) is caused by mutations in the gene coding for N-acetylgalactosamine-4-sulfatase (4-sulfatase, arylsulfatase B, ARSB, EC 3.1.6.12), a lysosomal enzyme involved in the degradation of dermatan sulfate (DS). ...

Last Updated: 28 Apr 2014

Go To URL
 
 
Top

Symptoms, Diagnosis, and Treatment

There are currently no related results available in GeneReviews.

 
 
Top

Clinical Trial Information This information is provided by ClinicalTrials.gov

Longitudinal Studies of Brain Structure and Function in MPS Disorders
 

Status: Recruiting

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

 

Last Updated: 28 Jul 2015

Go to URL
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: 10 Aug 2015

Go to URL
Effects of Adalimumab in Mucopolysaccharidosis Types I, II and VI
 

Status: Recruiting

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

 

Last Updated: 8 Jan 2016

Go to URL