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
- Sanfilippo disease (types A, B, C, and D)
- Sanfilippo syndrome (types A, B, C, and D)
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)
176 Nantwich Road
Crewe, Intl CW2 6BG
Tel: +44 870 7700 325
Fax: +44 870 7700 327
Vaincre Les Maladies Lysosomales
2 ter avenue de Fance
Tel: 01 69 75 40 30
Fax: 01 60 11 15 83
Arc (a national organization on mental retardation)
1010 Wayne Ave
Silver Spring, MD 20910
National MPS (Mucopolysaccharidoses/Mucolipidoses) Society, Inc.
PO Box 14686
Durham, NC 27709-4686
NIH/National Digestive Diseases Information Clearinghouse
2 Information Way
Bethesda, MD 20892-3570
Society for Mucopolysaccharide Diseases
White Lion Road
Buckinghamshire, HP7 9LP.
Tel: 004401494 434156
Fax: 004401494 434252
Canadian Society for Mucopolysaccharide and Related Diseases, Inc.
PO Box 64714
Ontario, Intl L3R OM9
MUMS National Parent-to-Parent Network
150 Custer Court
Green Bay, WI 54301-1243
Genetic and Rare Diseases (GARD) Information Center
PO Box 8126
Gaithersburg, MD 20898-8126
PO Box 241956
Los Angeles, CA 90024
Hide & Seek Foundation for Lysosomal Disease Research
6475 East Pacific Coast Highway Suite 466
Long Beach, CA 90803
Sanfilippo Foundation Switzerland
c/o Nat Services SA- 2 Rue de jargonnant - Case Postale 6045
1211 Geneva 6
Tel: +41 78 720 73 17
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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