Mucopolysaccharidosis Type I

National Organization for Rare Disorders, Inc.

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

Disorder Subdivisions

  • None

General Discussion

Mucopolysaccharidoses (MPS disorders) are a group of rare genetic disorders caused by the deficiency of one of ten specific lysosomal enzymes, resulting in an inability to metabolize complex carbohydrates (mucopolysaccharides) into simpler molecules. The accumulation of these large, undegraded mucopolysaccharides in the cells of the body causes a number of physical symptoms and abnormalities.

Mucopolysaccharidosis type I (MPS I) is a form of MPS caused by a deficiency of the enzyme alpha-L-iduronidase. The most severe form of MPS I is often called Hurler syndrome (or MPS IH). It is named for the physician, Gertrud Hurler, who first described the disorder in 1919. A milder form of MPS I is called Scheie syndrome (or MPS IS), and the name Hurler-Scheie (MPS IH/S) is sometimes applied to an intermediate form that does not fit clearly in either the milder or more severe category.

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

Let Them Hear Foundation

1900 University Avenue, Suite 101
East Palo Alto, CA 94303
Tel: (650)462-3174
Fax: (650)462-3144
Email: info@letthemhear.org
Website: http://www.letthemhear.org

Medical Home Portal

Dept. of Pediatrics
University of Utah
Salt Lake City, UT 84158
Tel: (801)587-9978
Fax: (801)581-3899
Email: mindy.tueller@utah.edu
Website: http://www.medicalhomeportal.org

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

Proyecto Pide un Deseo México, i.a.p.

Altadena #59-501
Nápoles
Benito Juárez, 03810
México, D.F.
Tel: +52 55 5543-2447
Fax: 55-5543-5450
Email: info@pideundeseo.org
Website: http://www.pideundeseo.org

Society for Mucopolysaccharide Diseases

MPS House
Repton Place
Buckinghamshire, HP7 9LP
United Kingdom
Tel: 8453899901
Fax: 8453899902
Email: mps@mpssociety.co.uk
Website: http://www.mpssociety.co.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

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.