Mucopolysaccharidosis type IIIB

Common Name(s)

Mucopolysaccharidosis type IIIB

Mucopolysaccharidosis type IIIB (MPS IIIB) is an genetic disorder that makes the body unable to break down large sugar molecules called glycosaminoglycans (GAGs, formerly called mucopolysaccharides). Specifically, people with this condition are unable to break down a GAG called heparan sulfate. Affected individuals can have severe neurological symptoms, including progressive dementia, aggressive behavior, hyperactivity, seizures, deafness, loss of vision, and an inability to sleep for more than a few hours at a time.  MPS IIIB is caused by alterations (mutations) in the NAGLU gene. This gene provides the instructions for producing an enzyme called N-alpha-acetylglucosaminidase, which is needed to completely break down heparan sulfate. MPS IIIB is inherited in an autosomal recessive manner. There is no specific treatment for this condition. Most people with MPS IIIB live into their teenage years, and some live longer.
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Mucopolysaccharidosis type IIIB" 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 IIIB" 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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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 IIIB" returned 10 free, full-text research articles on human participants. First 3 results:

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

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Insulin-like growth factor II peptide fusion enables uptake and lysosomal delivery of α-N-acetylglucosaminidase to mucopolysaccharidosis type IIIB fibroblasts.
 

Author(s): Shih-hsin Kan, Larisa A Troitskaya, Carolyn S Sinow, Karyn Haitz, Amanda K Todd, Ariana Di Stefano, Steven Q Le, Patricia I Dickson, Brigette L Tippin

Journal: Biochem. J.. 2014 Mar;458(2):281-9.

 

Enzyme replacement therapy for MPS IIIB (mucopolysaccharidosis type IIIB; also known as Sanfilippo B syndrome) has been hindered by inadequate mannose 6 phosphorylation and cellular uptake of rhNAGLU (recombinant human α-N-acetylglucosaminidase). We expressed and characterized a ...

Last Updated: 14 Feb 2014

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Mucopolysaccharidosis type IIIB (MPS IIIB) masquerading as a behavioural disorder.
 

Author(s): Jacqueline Brady, Aditi Trehan, Dennis Landis, Camilo Toro

Journal:

 

Inborn errors of metabolism (IEMs) that manifest primarily as psychiatric and behavioural symptoms in childhood are often mistaken for idiopathic primary psychiatric disorders. The pathophysiological basis of these symptoms may be overlooked until later in the disease course when ...

Last Updated: 10 May 2013

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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 IIIB" returned 0 free, full-text review articles on human participants.

 
 
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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

A Study of Mucopolysaccharidosis Type IIIB (MPS IIIB)
 

Status: Not yet recruiting

Condition Summary: Mucopolysaccharidosis Type IIIB (MPS IIIB)

 

Last Updated: 7 Jul 2015

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A Retrospective Chart Review of Deceased Patients With Mucopolysaccharidosis Type IIIB
 

Status: Recruiting

Condition Summary: MPS IIIB (Sanfilippo Syndrome)

 

Last Updated: 17 Nov 2014

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Last Updated: 19 May 2015

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