Mucopolysaccharidosis Type III
National Organization for Rare Disorders, Inc.
It is possible that the main title of the report Mucopolysaccharidosis Type III is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report.
- MPS disorder III
- MPS III
- mucopolysaccharide storage disease type III
- oligophrenic polydystrophy
- polydystrophia oligophrenia
The Mucopolysaccharidoses (MPS Disorders) are a group of rare genetic disorders caused by the deficiency of one of the lysosomal enzymes, resulting in an inability to metabolize complex carbohydrates (mucopolysaccharides) into simpler molecules. High concentrations of mucopolysaccharides in the cells of the central nervous system, including the brain, cause the neurological and developmental deficits that accompany these disorders.
Mucopolysaccharides are rather thick jelly-like ("muco") compounds made of long chains ("poly") of sugar-like (saccharides) molecules used to make connective tissues in the body.
Lysosomal enzymes are found in the lysosome, a very small membrane-contained body (organelle) found in the cytoplasm of most cells. The lysosome is often called the "waste disposal plant" of the cell. The accumulation of these large, undegraded mucopolysaccharides in the cells of the body is the cause of a number of physical symptoms and abnormalities.
MPS-III (Sanfilippo Syndrome) is one of seven MPS Disorders. It is an inborn error of metabolism that is transmitted as an autosomal recessive genetic disorder. MPS-lll has been subdivided into four types: MPS-III Type A, MPS-III Type B, MPS-III Type C, and MPS-III Type D. All types are associated with some degree of mental deterioration, but the severity depends on the particular type of MPS-lll. Several physical defects may be present, and the severity of these defects varies with the type of MPS-III. In the case of each type of MPS-III, abnormal amounts of a specific, chemically complex molecule is excreted in the urine. The excreted chemical is the same for each of the four types of MPS-III, since the defective gene involves a different step, and thus a different enzyme, in the deconstruction of the same mucopolysaccharide. By testing for one or another of these enzymes, the variant type may be readily identified.
CLIMB (Children Living with Inherited Metabolic Diseases)
- Climb Building
- 176 Nantwich Road
- Crewe, CW2 6BG
- United Kingdom
- Tel: 4408452412173
- Fax: 4408452412174
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- Website: http://www.CLIMB.org.uk
Canadian Society for Mucopolysaccharide and Related Diseases, Inc.
- PO Box 30034
- RPO Parkgate
- British Columbia, V7H 2Y8
- Tel: 6049245130
- Fax: 6049245131
- Tel: 8006671846
- Email: firstname.lastname@example.org
- Website: http://www.mpssociety.ca
Genetic and Rare Diseases (GARD) Information Center
- PO Box 8126
- Gaithersburg, MD 20898-8126
- Tel: (301)251-4925
- Fax: (301)251-4911
- Tel: (888)205-2311
- Website: http://rarediseases.info.nih.gov/GARD/
Hide & Seek Foundation for Lysosomal Disease Research
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- Long Beach, CA 90803
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- Fax: (866)215-8850
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- Website: http://www.hideandseek.org
Jonahs Just Begun - Foundation to Cure Sanfilippo, Inc.
- P. O. Box 150057
- Brooklyn, NY 11215
- Tel: (347)689-2186
- Fax: (347)710-3136
- Email: firstname.lastname@example.org
- Website: http://jonahsjustbegun.org/
NIH/National Institute of Diabetes, Digestive & Kidney Diseases
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- Tel: (301)496-3583
- Email: NDDIC@info.niddk.nih.gov
- Website: http://www2.niddk.nih.gov/
National MPS Society, Inc.
- PO Box 14686
- Durham, NC 27709
- Tel: (919)806-0101
- Fax: (919)806-2055
- Tel: (877)677-1001
- Email: email@example.com
- Website: http://www.mpssociety.org
Red Sanfilippo AC
- Tel: +52 (477) 1092133
- Fax: +52 (477) 2802408
- Email: firstname.lastname@example.org
- Website: http://www.redsanfilippo.org/
Sanfilippo Foundation Switzerland
- C/o NAT Services SA
- Street Jargonnant 2
- Geneva 1207,
- Tel: +41 (0) 78-745-08-28
- Email: email@example.com
- Website: http://www.sanfilippo-foundation.org
Society for Mucopolysaccharide Diseases
- MPS House
- Repton Place
- Buckinghamshire, HP7 9LP
- United Kingdom
- Tel: 8453899901
- Fax: 8453899902
- Email: firstname.lastname@example.org
- Website: http://www.mpssociety.co.uk
- 1825 K Street NW, Suite 1200
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- Tel: (800)433-5255
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- Website: http://www.thearc.org
Vaincre Les Maladies Lysosomales
- 2 Ter Avenue
- Massy, 91300
- Tel: 169754030
- Fax: 160111583
- Email: firstname.lastname@example.org
- Website: http://www.vml-asso.org
For a Complete Report
This is an abstract of a report from the National Organization for Rare Disorders (NORD). A copy of the complete report can be downloaded free from the NORD website for registered users. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational therapies (if available), and references from medical literature. For a full-text version of this topic, go to www.rarediseases.org and click on Rare Disease Database under "Rare Disease Information".
The information provided in this report is not intended for diagnostic purposes. It is provided for informational purposes only. NORD recommends that affected individuals seek the advice or counsel of their own personal physicians.
It is possible that the title of this topic is not the name you selected. Please check the Synonyms listing to find the alternate name(s) and Disorder Subdivision(s) covered by this report
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For additional information and assistance about rare disorders, please contact the National Organization for Rare Disorders at P.O. Box 1968, Danbury, CT 06813-1968; phone (203) 744-0100; web site www.rarediseases.org or email email@example.com
Last Updated: 1/10/1970
Copyright 2007 National Organization for Rare Disorders, Inc.
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