Mucopolysaccharidosis Type III

National Organization for Rare Disorders, Inc.

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It is possible that the main title of the report Mucopolysaccharidosis Type III is not the name you expected.

Disorder Subdivisions

  • None

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.

Supporting Organizations

CLIMB (Children Living with Inherited Metabolic Diseases)

Climb Building
176 Nantwich Road
Crewe, CW2 6BG
United Kingdom
Tel: 4408452412173
Fax: 4408452412174
Email: enquiries@climb.org.uk
Website: http://www.CLIMB.org.uk

Canadian Society for Mucopolysaccharide and Related Diseases, Inc.

#218-2055 Commercial Drive
Vancouver, BC V5N 0C7
Canada
Tel: (604) 924-5130
Tel: 1-800-667-1846
Email: info@mpssociety.ca
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

6475 East Pacific Coast Highway Suite 466
Long Beach, CA 90803
Tel: (877)621-1122
Fax: (866)215-8850
Email: info@hideandseek.org
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: jill@jonahsjustbegun.org or mari@jonahsjustbegun.org
Website: http://jonahsjustbegun.org/

NIH/National Institute of Diabetes, Digestive & Kidney Diseases

Office of Communications & Public Liaison
Bldg 31, Rm 9A06
Bethesda, MD 20892-2560
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: info@mpssociety.org
Website: http://www.mpssociety.org

Red Sanfilippo AC

Tel: +52 (477) 1092133
Fax: +52 (477) 2802408
Email: contacto@redsanfilippo.org
Website: http://www.redsanfilippo.org/

Sanfilippo Foundation Switzerland

C/o NAT Services SA
Street Jargonnant 2
Geneva 1207,
Switzerland
Tel: +41 (0) 78-745-08-28
Email: info@fondation-sanfilippo.ch
Website: http://www.sanfilippo-foundation.org

Society for Mucopolysaccharide Diseases

MPS House
Repton Place
Buckinghamshire, HP7 9LP
United Kingdom
Tel: 03453899901
Fax: 03453899902
Email: mps@mpssociety.co.uk
Website: http://www.mpssociety.org.uk

The Arc

1825 K Street NW, Suite 1200
Washington, DC 20006
Tel: (202)534-3700
Fax: (202)534-3731
Tel: (800)433-5255
Email: info@thearc.org
Website: http://www.thearc.org

Vaincre Les Maladies Lysosomales

2 Ter Avenue
Massy, 91300
France
Tel: 169754030
Fax: 160111583
Email: accueil@vml-asso.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). For a full-text version of this report, 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.

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.

This disease entry is based upon medical information available through the date at the end of the topic. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder.

Last Updated:  8/17/2007
Copyright  2007 National Organization for Rare Disorders, Inc.