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.

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.

Last Updated: 24 Nov 2009

View Details
Cochrane Collaboration

The Cochrane Collaboration is an international network of healthcare professionals, researchers and consumers preparing, maintaining, and disseminating high quality systematic reviews of randomised control trials. This review group focuses on genetic disorders such as cystic fibrosis (CF), haemoglobinopathies, coagulopathies and inborn errors of metabolism.

Last Updated: 12 May 2015

View Details
Logo
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

View Details
Logo
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

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" 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

View Details
Cochrane Collaboration

The Cochrane Collaboration is an international network of healthcare professionals, researchers and consumers preparing, maintaining, and disseminating high quality systematic reviews of randomised control trials. This review group focuses on genetic disorders such as cystic fibrosis (CF), haemoglobinopathies, coagulopathies and inborn errors of metabolism.

http://cfgd.cochrane.org

Last Updated: 12 May 2015

View Details
Logo
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

View Details
Logo
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

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" returned 277 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

Go To URL
Neonatal bone marrow transplantation prevents bone pathology in a mouse model of mucopolysaccharidosis type I.
 

Author(s): Alice Pievani, Isabella Azario, Laura Antolini, Tsutomu Shimada, Pravin Patel, Cristina Remoli, Benedetta Rambaldi, Maria Grazia Valsecchi, Mara Riminucci, Andrea Biondi, Shunji Tomatsu, Marta Serafini

Journal: Blood. 2015 Mar;125(10):1662-71.

 

Neonatal bone marrow transplantation (BMT) could offer a novel therapeutic opportunity for genetic disorders by providing sustainable levels of the missing protein at birth, thus preventing tissue damage. We tested this concept in mucopolysaccharidosis type I (MPS IH; Hurler syndrome), ...

Last Updated: 6 Mar 2015

Go To URL
Delivery of an enzyme-IGFII fusion protein to the mouse brain is therapeutic for mucopolysaccharidosis type IIIB.
 

Author(s): Shih-Hsin Kan, Mika Aoyagi-Scharber, Steven Q Le, Jon Vincelette, Kazuhiro Ohmi, Sherry Bullens, Daniel J Wendt, Terri M Christianson, Pascale M N Tiger, Jillian R Brown, Roger Lawrence, Bryan K Yip, John Holtzinger, Anil Bagri, Danielle Crippen-Harmon, Kristen N Vondrak, Zhi Chen, Chuck M Hague, Josh C Woloszynek, Diana S Cheung, Katherine A Webster, Evan G Adintori, Melanie J Lo, Wesley Wong, Paul A Fitzpatrick, Jonathan H LeBowitz, Brett E Crawford, Stuart Bunting, Patricia I Dickson, Elizabeth F Neufeld

Journal: Proc. Natl. Acad. Sci. U.S.A.. 2014 Oct;111(41):14870-5.

 

Mucopolysaccharidosis type IIIB (MPS IIIB, Sanfilippo syndrome type B) is a lysosomal storage disease characterized by profound intellectual disability, dementia, and a lifespan of about two decades. The cause is mutation in the gene encoding α-N-acetylglucosaminidase (NAGLU), deficiency ...

Last Updated: 15 Oct 2014

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" 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

Go To URL
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
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

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

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

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: 20 May 2015

Go to URL
Natural History Studies of Mucopolysaccharidosis III
 

Status: Recruiting

Condition Summary: Mucopolysaccharidosis Type IIIA; Mucopolysaccharidosis Type IIIB

 

Last Updated: 10 Feb 2015

Go to URL