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Copyright 1987, 1988, 1989, 1990, 1998, 2004, 2007
Synonyms of Mucopolysaccharidosis Type III
- MPS disorder III
- MPS III
- mucopolysaccharide storage disease type III
- oligophrenic polydystrophy
- polydystrophia oligophrenia
Disorder Subdivisions
- Sanfilippo disease (types A, B, C, and D)
- Sanfilippo syndrome (types A, B, C, and D)
General Discussion
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.
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Organizations related to Mucopolysaccharidosis Type III
- Arc (a national organization on mental retardation)
1010 Wayne Ave
Suite 650
Silver Spring MD 20910
Phone #: 301-565-3842
800 #: 800-433-5255
e-mail: info@thearc.org
Home page: http://www.thearc.org/
- CLIMB (Children Living with Inherited Metabolic Diseases)
Climb Building
176 Nantwich Road
Crewe Intl CW2 6BG
Phone #: +44- 87-0 7700 325
800 #: --
e-mail: info.svcs@climb.org.uk
Home page: http://www.CLIMB.org.uk
- Canadian Society for Mucopolysaccharide and Related Diseases, Inc.
PO Box 64714
Unionville
Ontario Intl L3R OM9
Phone #: 905--47-9-8701
800 #: 800--66-7-1846
e-mail: lori.mps@rogers.com
Home page: http://www.mpssociety.ca
- Genetic and Rare Diseases (GARD) Information Center
PO Box 8126
Gaithersburg MD 20898-8126
Phone #: 301-251-4925
800 #: 888-205-2311
e-mail: ordr@od.nih.gov
Home page: http://rarediseases.info.nih.gov/Default.aspx
- Hide & Seek Foundation for Lysosomal Disease Research
6475 East Pacific Coast Highway Suite 466
Long Beach CA 90803
Phone #: 877-621-1122
800 #: N/A
e-mail: info@hideandseek.org
Home page: http://www.hideandseek.org
- MUMS (Mothers United for Moral Support, Inc) National Parent-to-Parent Network
150 Custer Court
Green Bay WI 54301-1243
Phone #: 920-336-5333
800 #: 877-336-5333
e-mail: mums@netnet.net
Home page: http://www.netnet.net/mums/
- Madisons Foundation
PO Box 241956
Los Angeles CA 90024
Phone #: 310-264-0826
800 #: N/A
e-mail: getinfo@madisonsfoundation.org
Home page: http://www.madisonsfoundation.org
- NIH/National Digestive Diseases Information Clearinghouse
2 Information Way
Bethesda MD 20892-3570
Phone #: 301-654-3810
800 #: 800-891-5389
e-mail: nddic@info.niddk.nih.gov
Home page: http://www.niddk.nih.gov
- National MPS (Mucopolysaccharidoses/Mucolipidoses) Society, Inc.
PO Box 14686
Durham NC 27709-4686
Phone #: 919-806-0101
800 #: --
e-mail: info@mpssociety.org
Home page: http://www.mpssociety.org
- Sanfilippo Foundation Switzerland
c/o Nat Services SA- 2 Rue de jargonnant - Case Postale 6045
1211 Geneva 6
None None None
Phone #: +41- 78- 720 73 17
800 #: N/A
e-mail: info@fondation-sanfilippo.ch
Home page: http://www.sanfilippo-foundation.org
- Society for Mucopolysaccharide Diseases
MPS House
Repton Place
White Lion Road
Amersham
Buckinghamshire None HP7 9LP.
Phone #: 004-401-494 434156
800 #: --
e-mail: mps@mpssociety.co.uk
Home page: http://www.mpssociety.co.uk
- Vaincre Les Maladies Lysosomales
2 ter avenue de Fance
Massy None 91300
Phone #: 01 -69 -75 40 30
800 #: --
e-mail: accueil@vml-asso.org
Home page: http://www.vml-asso.org
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