Mucopolysaccharidosis type IIIA

Common Name(s)

Mucopolysaccharidosis type IIIA

Mucopolysaccharidosis type IIIA (MPS IIIA) is an genetic disorder that makes the body unable to break down large sugar molecules called glycosaminoglycans (GAGs, formerly called mucopolysaccharides). MPS IIIA is the most severe of the MPS III disorders and children with this condition have the shortest survival rate among those with the MPS III disorders.  Individuals 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 IIIA is caused by the missing or altered enzyme heparan N-sulfatase. MPS IIIA is inherited in an autosomal recessive manner. There is no specific treatment for this condition.
 

Advocacy and Support Organizations

 

Condition Specific Organizations

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

Mucopolysaccharidosis Type IIIA presents as a variant of Klüver-Bucy syndrome.
 

Author(s): Michael Potegal, Brianna Yund, Kyle Rudser, Alia Ahmed, Kate Delaney, Igor Nestrasil, Chester B Whitley, Elsa G Shapiro

Journal: J Clin Exp Neuropsychol. 2013 ;35(6):608-16.

 

Mucopolysaccharidosis Type IIIA (MPS IIIA) is a neurodegenerative disease with behavioral symptoms unique among the mucopolysaccharidoses. Children with MPS IIIA reportedly mouth things, explore novel environments almost continuously, disregard danger, and empathize/socialize and ...

Last Updated: 2 Jul 2013

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Assessment of bone dysplasia by micro-CT and glycosaminoglycan levels in mouse models for mucopolysaccharidosis type I, IIIA, IVA, and VII.
 

Author(s): Daniel J Rowan, Shunji Tomatsu, Jeffrey H Grubb, Adriana M Montaño, William S Sly

Journal: J. Inherit. Metab. Dis.. 2013 Mar;36(2):235-46.

 

Mucopolysaccharidoses (MPS) are a group of lysosomal storage diseases caused by mutations in lysosomal enzymes involved in degradation of glycosaminoglycans (GAGs). Patients with MPS grow poorly and become physically disabled due to systemic bone disease. While many of the major skeletal ...

Last Updated: 7 Mar 2013

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Impairment of glycosaminoglycan synthesis in mucopolysaccharidosis type IIIA cells by using siRNA: a potential therapeutic approach for Sanfilippo disease.
 

Author(s): Dariusz Dziedzic, Grzegorz Wegrzyn, Joanna Jakóbkiewicz-Banecka

Journal: Eur. J. Hum. Genet.. 2010 Feb;18(2):200-5.

 

Mucopolysaccharidoses (MPS) are severe inherited metabolic disorders from the group of lysosomal storage diseases. They are caused by deficiency in the activity of enzymes involved in the degradation of glycosaminoglycans (GAGs) and resultant accumulation of these compounds in the ...

Last Updated: 15 Jan 2010

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

 
 
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Symptoms, Diagnosis, and Treatment

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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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Biomarker for Sanfilippo Disease
 

Status: Recruiting

Condition Summary: Mucopolysaccharidosis Type 3 A; Mucopolysaccharidosis Type 3 B; Mucopolysaccharidosis Type 3 C; Mucopolysaccharidosis Type 3 D; Heparan Sulfate Sulfatase Deficiency

 

Last Updated: 19 Nov 2014

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