Diseases & Conditions


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Mucopolysaccharidosis Type III


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
  • CLIMB (Children Living with Inherited Metabolic Diseases)
    Climb Building
    Crewe Intl CW2 6BG
    Phone #: +44- 87-0 7700 325
    800 #: --
    e-mail: info@climb.org.uk
    Home page: http://www.CLIMB.org.uk
  • Canadian Society for Mucopolysaccharide and Related Diseases, Inc.
    PO Box 64714
    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
  • Hide & Seek Foundation for Lysosomal Disease Research
    4123 Lankershim Blvd.
    North Hollywood CA 91602-2828
    Phone #: 818-762-8621
    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
  • Society for Mucopolysaccharide Diseases
    46 Woodside Road
    Buckinghamshire None HP6 6AJ
    Phone #: 004-401-494 434156
    800 #: --
    e-mail: mps@mpssociety.co.uk
    Home page: http://www.mpssociety.co.uk
  • The Arc (a national organization on mental retardation)
    1010 Wayne Ave
    Silver Spring MD 20910
    Phone #: 301-565-3842
    800 #: 800-433-5255
    e-mail: info@thearc.org
    Home page: http://www.thearc.org/
  • 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



For a Complete Report

This is an abstract of a report from the National Organization for Rare Disorders, Inc. ? (NORD). A copy of the complete report can be obtained for a small fee by visiting the NORD website. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational treatments (if available), and references from medical literature. For a full-text version of this topic, see http://www.rarediseases.org/search/rdblist.html