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

Mucopolysaccharidosis type IIIB may predominantly present with an attenuated clinical phenotype.
 

Author(s): Marlies J Valstar, Hennie T Bruggenwirth, Renske Olmer, Ron A Wevers, Frans W Verheijen, Ben J Poorthuis, Dicky J Halley, Frits A Wijburg

Journal: J. Inherit. Metab. Dis.. 2010 Dec;33(6):759-67.

 

Mucopolysaccharidosis type IIIB (MPS IIIB, Sanfilippo syndrome type B) is a lysosomal storage disorder caused by deficiency of the enzyme N-acetyl-α-D-glucosaminidase (NAGLU). Information on the natural course of MPS IIIB is scarce but much needed in view of emerging therapies. To ...

Last Updated: 29 Nov 2010

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Novel pathologic findings associated with urinary retention in a mouse model of mucopolysaccharidosis type IIIB.
 

Author(s): Sylvia I Gografe, Paul R Sanberg, Wilfredo Chamizo, Hector Monforte, Svitlana Garbuzova-Davis

Journal: Comp. Med.. 2009 Apr;59(2):139-46.

 

Mucopolysaccharidosis type IIIB (MPS IIIB; Sanfilippo syndrome type B) is a metabolic disorder with devastating clinical characteristics starting in early childhood and leading to premature death. A knockout mouse strain was developed that models this disease. Mice of the strain B6.129S6- ...

Last Updated: 24 Apr 2009

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Correction of mucopolysaccharidosis type IIIb fibroblasts by lentiviral vector-mediated gene transfer.
 

Author(s): Guglielmo R D Villani, Antonia Follenzi, Borghina Vanacore, Carmela Di Domenico, Luigi Naldini, Paola Di Natale

Journal: Biochem. J.. 2002 Jun;364(Pt 3):747-53.

 

Mucopolysaccharidosis type IIIB (MPS IIIB; or Sanfilippo syndrome type B) is a lysosomal disease, due to glycosaminoglycan storage caused by mutations on the alpha-N-acetylglucosaminidase (NAGLU) gene. The disease is characterized by neurological dysfunction but relatively mild somatic ...

Last Updated: 6 Jun 2002

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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

Natural History Studies of Mucopolysaccharidosis III
 

Status: Recruiting

Condition Summary: Mucopolysaccharidosis Type IIIA; Mucopolysaccharidosis Type IIIB

 

Last Updated: 15 Jan 2014

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Neurobehavioral Phenotypes in MPS III
 

Status: Recruiting

Condition Summary: Sanfilippo Syndrome Type A; Sanfilippo Syndrome Type B; Hurler Syndrome

 

Last Updated: 5 Jun 2013

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