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.

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CNS Foundation

CNS Foundation's Mission is Three-fold: - Expedite scientific research to find treatments and cures for the more than 14 million children living with some form of neurological disorder - Provide families and health care professionals with up-to-date information and resources on the latest discoveries in pediatric neurology - Educate the public, and public officials, on the critical importance of funding pediatric neurological disorder research

Last Updated: 12 Oct 2013

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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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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.

Logo
CNS Foundation

CNS Foundation's Mission is Three-fold: - Expedite scientific research to find treatments and cures for the more than 14 million children living with some form of neurological disorder - Provide families and health care professionals with up-to-date information and resources on the latest discoveries in pediatric neurology - Educate the public, and public officials, on the critical importance of funding pediatric neurological disorder research

http://www.cnsfoundation.org

Last Updated: 12 Oct 2013

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

The first Korean case of mucopolysaccharidosis IIIC (Sanfilippo syndrome type C) confirmed by biochemical and molecular investigation.
 

Author(s): Hee Jae Huh, Ja Young Seo, Sung Yoon Cho, Chang-Seok Ki, Soo-Youn Lee, Jong-Won Kim, Hyung-Doo Park, Dong-Kyu Jin

Journal: Ann Lab Med. 2013 Jan;33(1):75-9.

 

Mucopolysaccharidosis (MPS) III has 4 enzymatically distinct forms (A, B, C, and D), and MPS IIIC, also known as Sanfilippo C syndrome, is an autosomal recessive lysosomal storage disease caused by a deficiency of heparan acetyl-CoA:alpha-glucosaminide N-acetyltransferase (HGSNAT). ...

Last Updated: 9 Jan 2013

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Identification of the gene encoding the enzyme deficient in mucopolysaccharidosis IIIC (Sanfilippo disease type C).
 

Author(s): Xiaolian Fan, Huiwen Zhang, Sunqu Zhang, Richard D Bagshaw, Michael B Tropak, John W Callahan, Don J Mahuran

Journal: Am. J. Hum. Genet.. 2006 Oct;79(4):738-44.

 

Mucopolysaccharidosis IIIC (MPS IIIC), or Sanfilippo C, represents the only MPS disorder in which the responsible gene has not been identified; however, the gene has been localized to the pericentromeric region of chromosome 8. In an ongoing proteomics study of mouse lysosomal membrane ...

Last Updated: 8 Sep 2006

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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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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

There are currently no open clinical trials for this condition.