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

View Details

 

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

A Desensitization Method to Maintain Enzyme Replacement Therapy in Mucopolysaccharidosis Type VI.
 

Author(s): D Kör, B Şeker Yilmaz, F D Bulut, N Önenli Mungan, D Ufuk Altıntaş

Journal: J Investig Allergol Clin Immunol. 2016 ;26(2):130-2.

 

Last Updated: 11 May 2016

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Novel mutations of the arylsulphatase B (ARSB) gene in Indian patients with mucopolysaccharidosis type VI.
 

Author(s): Anusha Uttarilli, Prajnya Ranganath, S Jamal Md Nurul Jain, C Krishna Prasad, Anupam Sinha, Ishwar C Verma, Shubha R Phadke, Ratna D Puri, Sumita Danda, Mamta N Muranjan, Ganesh Jevalikar, H A Nagarajaram, Ashwin B Dalal

Journal: Indian J. Med. Res.. 2015 Oct;142(4):414-25.

 

Mucopolysaccharidosis type VI (MPS VI) is a rare, autosomal recessive lysosomal storage disorder caused by deficient enzymatic activity of N-acetyl galactosamine-4-sulphatase resulting from mutations in the arylsulphatase B (ARSB) gene. The ARSB gene is located on chromosome 5q11-q13 ...

Last Updated: 26 Nov 2015

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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

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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 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

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Symptoms, Diagnosis, and Treatment

There are currently no related results available in Genetics Home Reference.

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: Recruiting

Condition Summary: Maroteaux-Lamy Syndrome

 

Last Updated: 15 Aug 2016

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Biomarker for Maroteaux-Lamy Disease
 

Status: Recruiting

Condition Summary: Maroteaux-lamy Disease; Lysosomal Storage Diseases

 

Last Updated: 23 Nov 2016

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Mucopolysaccharidosis (MPS) VI Clinical Surveillance Program (CSP)
 

Status: Recruiting

Condition Summary: Mucopolysaccharidosis VI (MPS VI, Maroteaux-Lamy Syndrome)

 

Last Updated: 14 Nov 2016

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