Mucopolysaccharidosis type III

Common Name(s)

Mucopolysaccharidosis type III

Mucopolysaccharidosis type III (MPS III) is a 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 III is inherited in an autosomal recessive manner. There is no specific treatment for this condition. Most people with MPS III live into their teenage years, and some live longer.  

MPS III is divided into four subtypes, known as A, B, C and D.  Each subtype is caused by the alteration of a different enzyme needed to completely break down heparan sulfate. The different types of MPS III have similar signs and symptoms, although type A is the most severe.

To view the GARD pages on the subtypes of MPS III, click on the following links:

Mucopolysaccharidosis type IIIA
Mucopolysaccharidosis type IIIB
Mucopolysaccharidosis type IIIC
Mucopolysaccharidosis type IIID

 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Mucopolysaccharidosis type III" 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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How do you compare to others with this condition?

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Mucopolysaccharidosis type III" 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 III" returned 5 free, full-text research articles on human participants. First 3 results:

Cognitive development in patients with Mucopolysaccharidosis type III (Sanfilippo syndrome).
 

Author(s): Marlies J Valstar, Jan Pieter Marchal, Martha Grootenhuis, Vivian Colland, Frits A Wijburg

Journal:

 

Mucopolysaccharidosis type III (MPS III, Sanfilippo syndrome) is a lysosomal storage disorder caused by a deficiency of one of the enzymes involved in the degradation of heparan sulfate. MPS III is characterized by progressive mental deterioration resulting in severe dementia. A number ...

Last Updated: 6 Jul 2011

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Protein misfolding as an underlying molecular defect in mucopolysaccharidosis III type C.
 

Author(s): Matthew Feldhammer, Stéphanie Durand, Alexey V Pshezhetsky

Journal:

 

Mucopolysaccharidosis type IIIC or Sanfilippo syndrome type C (MPS IIIC, MIM #252930) is an autosomal recessive disorder caused by deficiency of the lysosomal membrane enzyme, heparan sulfate acetyl-CoA: alpha-glucosaminide N-acetyltransferase (HGSNAT, EC 2.3.1.78), which catalyses ...

Last Updated: 13 Oct 2009

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A mouse model for mucopolysaccharidosis type III A (Sanfilippo syndrome).
 

Author(s): M Bhaumik, V J Muller, T Rozaklis, L Johnson, K Dobrenis, R Bhattacharyya, S Wurzelmann, P Finamore, J J Hopwood, S U Walkley, P Stanley

Journal: Glycobiology. 1999 Dec;9(12):1389-96.

 

Mucopolysaccharidosis type III A (MPS III A, Sanfilippo syndrome) is a rare, autosomal recessive, lysosomal storage disease characterized by accumulation of heparan sulfate secondary to defective function of the lysosomal enzyme heparan N- sulfatase (sulfamidase). Here we describe ...

Last Updated: 1 Feb 2000

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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 III" returned 2 free, full-text review articles on human participants. First 3 results:

Mucopolysaccharidosis type III (Sanfilippo syndrome) and misdiagnosis of idiopathic developmental delay, attention deficit/hyperactivity disorder or autism spectrum disorder.
 

Author(s): Frits A Wijburg, Grzegorz Węgrzyn, Barbara K Burton, Anna Tylki-Szymańska

Journal: Acta Paediatr.. 2013 May;102(5):462-70.

 

Mucopolysaccharidosis III is a rare genetic disease characterized by progressive cognitive decline and severe hyperactivity that does not respond to stimulants. Somatic features are relatively mild. Patients are often initially misdiagnosed as having idiopathic developmental delay, ...

Last Updated: 9 Apr 2013

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Management of mucopolysaccharidosis type III.
 

Author(s): M A Cleary, J E Wraith

Journal: Arch. Dis. Child.. 1993 Sep;69(3):403-6.

 

Last Updated: 9 Nov 1993

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Symptoms, Diagnosis, and Treatment

There are currently no related results available in GeneReviews.

There are currently no related results available in Genetic Testing Registry.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

Lysosomal Storage Disease: Health, Development, and Functional Outcome Surveillance in Preschool Children
 

Status: Recruiting

Condition Summary: Mucopolysaccharidosis Type I (MPS I); Mucopolysaccharidosis Type II (MPS II); Mucopolysaccharidosis Type III (MPS III); Mucopolysaccharidosis Type VI (MPS VI); Krabbe Disease

 

Last Updated: 4 Sep 2013

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HSCT for High Risk Inherited Inborn Errors
 

Status: Recruiting

Condition Summary: Adrenoleukodystrophy; Metachromatic Leukodystrophy; Globoid Cell Leukodystrophy; Tay Sachs Disease; Sandhoffs Disease; Wolman Disease; I-Cell Disease; Sanfilippo Syndrome; GM1 Gangliosidosis

 

Last Updated: 8 Jul 2014

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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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