Mucopolysaccharidosis type IIIC

Common Name(s)

Mucopolysaccharidosis type IIIC, Sanfilippo Syndrome

Mucopolysaccharidosis type IIIC (MPS IIIC) 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 IIIC results from the missing or altered enzyme acetyl-CoAlpha-glucosaminide acetyltransferase. This condition is inherited in an autosomal recessive manner. There is no specific treatment. Most people with MPS IIIC live into their teenage years; some live longer.
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Mucopolysaccharidosis type IIIC" for support, advocacy or research.

Jonah's Just Begun-Foundation to Cure Sanfilippo Inc.

Jonah's Just Begun – Foundation to Cure Sanfilippo Inc. is a 501(c)3. JJB raises funds and then distributes them to academic researchers focused on Sanfilippo type C. We have two goals: first, to drive the science that will ultimately lead to a cure for Sanfilippo type C; and second, to raise awareness for all rare diseases. We also empower and encourage others affected by rare diseases to advocate for cures.

Last Updated: 16 Jan 2013

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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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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

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General Support Organizations

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Mucopolysaccharidosis type IIIC" for support, advocacy or research.

Jonah's Just Begun-Foundation to Cure Sanfilippo Inc.

Jonah's Just Begun – Foundation to Cure Sanfilippo Inc. is a 501(c)3. JJB raises funds and then distributes them to academic researchers focused on Sanfilippo type C. We have two goals: first, to drive the science that will ultimately lead to a cure for Sanfilippo type C; and second, to raise awareness for all rare diseases. We also empower and encourage others affected by rare diseases to advocate for cures.

http://jonahsjustbegun.org/

Last Updated: 16 Jan 2013

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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.

http://www.mpssociety.org

Last Updated: 22 Oct 2012

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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

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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 IIIC" returned 5 free, full-text research articles on human participants. First 3 results:

Klüver-Bucy syndrome associated with a recessive variant in HGSNAT in two siblings with Mucopolysaccharidosis type IIIC (Sanfilippo C).
 

Author(s): Hao Hu, Christoph Hübner, Zoltan Lukacs, Luciana Musante, Esther Gill, Thomas F Wienker, Hans-Hilger Ropers, Ellen Knierim, Markus Schuelke

Journal: Eur. J. Hum. Genet.. 2017 02;25(2):253-256.

 

Klüver-Bucy syndrome (KBS) comprises a set of neurobehavioral symptoms with psychic blindness, hypersexuality, disinhibition, hyperorality, and hypermetamorphosis that were originally observed after bilateral lobectomy in Rhesus monkeys. We investigated two siblings with KBS from ...

Last Updated: 31 Dec 1969

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Progressive neurologic and somatic disease in a novel mouse model of human mucopolysaccharidosis type IIIC.
 

Author(s): Sara Marcó, Anna Pujol, Carles Roca, Sandra Motas, Albert Ribera, Miguel Garcia, Maria Molas, Pilar Villacampa, Cristian S Melia, Víctor Sánchez, Xavier Sánchez, Joan Bertolin, Jesús Ruberte, Virginia Haurigot, Fatima Bosch

Journal: Dis Model Mech. 2016 09;9(9):999-1013.

 

Mucopolysaccharidosis type IIIC (MPSIIIC) is a severe lysosomal storage disease caused by deficiency in activity of the transmembrane enzyme heparan-α-glucosaminide N-acetyltransferase (HGSNAT) that catalyses the N-acetylation of α-glucosamine residues of heparan sulfate. Enzyme ...

Last Updated: 31 Dec 1969

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Non-syndromic retinitis pigmentosa due to mutations in the mucopolysaccharidosis type IIIC gene, heparan-alpha-glucosaminide N-acetyltransferase (HGSNAT).
 

Author(s): Lonneke Haer-Wigman, Hadas Newman, Rina Leibu, Nathalie M Bax, Hagit N Baris, Leah Rizel, Eyal Banin, Amir Massarweh, Susanne Roosing, Dirk J Lefeber, Marijke N Zonneveld-Vrieling, Ofer Isakov, Noam Shomron, Dror Sharon, Anneke I Den Hollander, Carel B Hoyng, Frans P M Cremers, Tamar Ben-Yosef

Journal: Hum. Mol. Genet.. 2015 Jul;24(13):3742-51.

 

Retinitis pigmentosa (RP), the most common form of inherited retinal degeneration, is clinically and genetically heterogeneous and can appear as syndromic or non-syndromic. Mucopolysaccharidosis type IIIC (MPS IIIC) is a lethal disorder, caused by mutations in the heparan-alpha-glucosaminide ...

Last Updated: 31 Dec 1969

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

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

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: 5 Feb 2018

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