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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General Support Organizations

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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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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 25 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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Can Macrosomia or Large for Gestational Age Be Predictive of Mucopolysaccharidosis Type I, II and VI?
 

Author(s): Agnieszka Różdżyńska-Świątkowska, Agnieszka Jurecka, Zbigniew Żuber, Anna Tylki-Szymańska

Journal: Pediatr Neonatol. 2016 06;57(3):181-7.

 

The objective of the study was to compare mean values for birth body length and weight between patients with mucopolysaccharidosis (MPS) and the general population.

Last Updated: 11 Jun 2016

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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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Clinical Trial Information This information is provided by ClinicalTrials.gov

Gene Therapy in Patients With Mucopolysaccharidosis Disease
 

Status: Not yet recruiting

Condition Summary: Mucopolysaccharidosis Type VI

 

Last Updated: 19 Jul 2017

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Biomarker for Maroteaux-Lamy Disease
 

Status: Recruiting

Condition Summary: Maroteaux-lamy Disease; Lysosomal Storage Diseases

 

Last Updated: 25 Apr 2017

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Mucopolysaccharidosis (MPS) VI Clinical Surveillance Program (CSP)
 

Status: Recruiting

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

 

Last Updated: 19 Apr 2017

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