Mucopolysaccharidosis

Common Name(s)

Mucopolysaccharidosis

Description for this condition is not yet available.
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Mucopolysaccharidosis" for support, advocacy or research.

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Canadian Society for Mucopolysaccharide and Related Diseases Inc.

The Canadian MPS Society is committed to providing support to families affected with MPS and related diseases, educating medical professionals and the general public about MPS and related diseases, and raising funds for research so that one day cures can be found for all types of MPS and related diseases.

Last Updated: 24 Nov 2009

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National Endowment for Alzheimer's Research

At NEAR, our mission is to investigate the underlying causes of Alzheimer's and to develop rapid clinical interventions both for Alzheimer's and other brain disorders. A secondary mission is to promote public awareness and education with respect to Alzheimer's disease and related dementia, and to encourage the involvement of individuals, businesses, foundations, and government in finding a cure.

Last Updated: 20 Dec 2012

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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

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General Support Organizations

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Mucopolysaccharidosis" for support, advocacy or research.

Logo
Canadian Society for Mucopolysaccharide and Related Diseases Inc.

The Canadian MPS Society is committed to providing support to families affected with MPS and related diseases, educating medical professionals and the general public about MPS and related diseases, and raising funds for research so that one day cures can be found for all types of MPS and related diseases.

http://www.mpssociety.ca

Last Updated: 24 Nov 2009

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National Endowment for Alzheimer's Research

At NEAR, our mission is to investigate the underlying causes of Alzheimer's and to develop rapid clinical interventions both for Alzheimer's and other brain disorders. A secondary mission is to promote public awareness and education with respect to Alzheimer's disease and related dementia, and to encourage the involvement of individuals, businesses, foundations, and government in finding a cure.

http://www.memorymatters.org

Last Updated: 20 Dec 2012

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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

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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" returned 270 free, full-text research articles on human participants. First 3 results:

Heparan sulfate inhibits hematopoietic stem and progenitor cell migration and engraftment in mucopolysaccharidosis I.
 

Author(s): H Angharad Watson, Rebecca J Holley, Kia J Langford-Smith, Fiona L Wilkinson, Toin H van Kuppevelt, Robert F Wynn, J Edmond Wraith, Catherine L R Merry, Brian W Bigger

Journal: J. Biol. Chem.. 2014 Dec;289(52):36194-203.

 

Mucopolysaccharidosis I Hurler (MPSI-H) is a pediatric lysosomal storage disease caused by genetic deficiencies in IDUA, coding for α-l-iduronidase. Idua(-/-) mice share similar clinical pathology with patients, including the accumulation of the undegraded glycosaminoglycans (GAGs) ...

Last Updated: 27 Dec 2014

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Natural history and galsulfase treatment in mucopolysaccharidosis VI (MPS VI, Maroteaux-Lamy syndrome)--10-year follow-up of patients who previously participated in an MPS VI Survey Study.
 

Author(s): Roberto Giugliani, Christina Lampe, Nathalie Guffon, David Ketteridge, Elisa Leão-Teles, James E Wraith, Simon A Jones, Cheri Piscia-Nichols, Ping Lin, Adrian Quartel, Paul Harmatz

Journal: Am. J. Med. Genet. A. 2014 Aug;164A(8):1953-64.

 

Mucopolysaccharidosis VI (MPS VI) is a clinically heterogeneous and progressive disorder with multiorgan manifestations caused by deficient N-acetylgalactosamine-4-sulfatase activity. A cross-sectional Survey Study in individuals (n = 121) affected with MPS VI was conducted between ...

Last Updated: 21 Jul 2014

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Molecular testing of 163 patients with Morquio A (Mucopolysaccharidosis IVA) identifies 39 novel GALNS mutations.
 

Author(s): A Morrone, K L Tylee, M Al-Sayed, A C Brusius-Facchin, A Caciotti, H J Church, M J Coll, K Davidson, M J Fietz, L Gort, M Hegde, F Kubaski, L Lacerda, F Laranjeira, S Leistner-Segal, S Mooney, S Pajares, L Pollard, I Ribeiro, R Y Wang, N Miller

Journal: Mol. Genet. Metab.. 2014 Jun;112(2):160-70.

 

Morquio A (Mucopolysaccharidosis IVA; MPS IVA) is an autosomal recessive lysosomal storage disorder caused by partial or total deficiency of the enzyme galactosamine-6-sulfate sulfatase (GALNS; also known as N-acetylgalactosamine-6-sulfate sulfatase) encoded by the GALNS gene. Patients ...

Last Updated: 2 Jun 2014

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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" returned 25 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

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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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Treatment of hip dysplasia in patients with mucopolysaccharidosis type I after hematopoietic stem cell transplantation: results of an international consensus procedure.
 

Author(s): Eveline J Langereis, Andrea Borgo, Ellen Crushell, Paul R Harmatz, Peter M van Hasselt, Simon A Jones, Paula M Kelly, Christina Lampe, Johanna H van der Lee, Thierry Odent, Ralph Sakkers, Maurizio Scarpa, Matthias U Schafroth, Peter A Struijs, Vassili Valayannopoulos, Klane K White, Frits A Wijburg

Journal:

 

Mucopolysaccharidosis type I (MPS-I) is a lysosomal storage disorder characterized by progressive multi-organ disease. The standard of care for patients with the severe phenotype (Hurler syndrome, MPS I-H) is early hematopoietic stem cell transplantation (HSCT). However, skeletal ...

Last Updated: 15 Nov 2013

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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

Mucopolysaccharidosis (MPS) I, II, and VI Screening in a High-Risk Population With Previous Surgical Repair or Presence of Inguinal and/or Umbilical Hernia in Combination With Pediatric ENT Surgery (The HATT Project)
 

Status: Recruiting

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

 

Last Updated: 13 Apr 2015

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Natural History Studies of Mucopolysaccharidosis III
 

Status: Recruiting

Condition Summary: Mucopolysaccharidosis Type IIIA; Mucopolysaccharidosis Type IIIB

 

Last Updated: 10 Feb 2015

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Diagnosis of Mucopolysaccharidosis Disorders in Patients Presenting With Bilateral Hip Disease
 

Status: Recruiting

Condition Summary: Mucopolysaccharidosis IV A; Mucopolysaccharidosis VI

 

Last Updated: 2 Aug 2013

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