Mucopolysaccharidoses

National Organization for Rare Disorders, Inc.

Important
It is possible that the main title of the report Mucopolysaccharidoses 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.

Synonyms

  • MPS
  • MPS Disorder

Disorder Subdivisions

  • MPS I H (Hurler Disease)
  • MPS IV A and B (Morquio Syndrome)
  • MPS I S (Scheie Syndrome)
  • MPS V (obsolete)
  • MPS III A, B, C, and D (Sanfillipo Syndrome)
  • MPS 1 H/S (Hurler/Scheie Syndrome)
  • MPS VII (Sly Syndrome)
  • MPS VIII (obsolete)
  • MPS II-(Hunter Syndrome)
  • MPS VI (Maroteaux-Lamy Syndrome)
  • MPS IX (Hyaluronidase Deficiency)

General Discussion

The mucopolysaccharidoses (MPS) are a group of inherited lysosomal storage disorders. Lysosomes function as the primary digestive units within cells. Enzymes within lysosomes break down or digest particular nutrients, such as certain carbohydrates and fats. In individuals with MPS disorders, deficiency or malfunction of specific lysosomal enzymes leads to an abnormal accumulation of certain complex carbohydrates (mucopolysaccharides or glycosaminoglycans) in the arteries, skeleton, eyes, joints, ears, skin, and/or teeth. These accumulations may also be found in the respiratory system, liver, spleen, central nervous system, blood, and bone marrow. This accumulation eventually causes progressive damage to cells, tissues, and various organ systems of the body. There are several different types and subtypes of mucopolysaccharidosis. These disorders, with one exception, are inherited as autosomal recessive traits.
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Resources

Vaincre Les Maladies Lysosomales
2 ter avenue de Fance
Massy, 91300
France
Tel: 01 69 75 40 30
Fax: 01 60 11 15 83
Email: accueil@vml-asso.org
Internet: http://www.vml-asso.org

March of Dimes Birth Defects Foundation
1275 Mamaroneck Avenue
White Plains, NY 10605
Tel: (914)997-4488
Fax: (914)997-4763
Tel: (888)663-4637
Email: Askus@marchofdimes.com
Internet: http://www.marchofdimes.com

National MPS (Mucopolysaccharidoses/Mucolipidoses) Society, Inc.
PO Box 14686
Durham, NC 27709-4686
Tel: (919)806-0101
Fax: (919)806-2055
Email: info@mpssociety.org
Internet: http://www.mpssociety.org

NIH/National Institute of Diabetes, Digestive & Kidney Diseases
Endocrine Diseases Metabolic Diseases Branch
2 Information Way
Bethesda, MD 20892-3570
Tel: (301)654-3810
Fax: (301)496-7422
Email: NDDIC@info.niddk.nih.gov
Internet: http://www.niddk.nih.gov

National Institute of Neurological Disorders and Stroke (NINDS)
P.O. Box 5801
Bethesda, MD 20824
Tel: (301)496-5751
Fax: (301)402-2186
Tel: (800)352-9424
TDD: (301)468-5981
Email: me20t@nih.gov
Internet: http://www.ninds.nih.gov/

Society for Mucopolysaccharide Diseases
MPS House
Repton Place
White Lion Road
Amersham
Buckinghamshire, HP7 9LP.
United Kingdom
Tel: 004401494 434156
Fax: 004401494 434252
Email: mps@mpssociety.co.uk
Internet: http://www.mpssociety.co.uk

Canadian Society for Mucopolysaccharide and Related Diseases, Inc.
PO Box 64714
Unionville
Ontario, Intl L3R OM9
Canada
Tel: 905-479-8701
Fax: 905-479-8701
Tel: 800-667-1846
Email: lori.mps@rogers.com
Internet: http://www.mpssociety.ca

Gesellschaft fur Mukopolysaccharidosen und ahuliche Erkrankungen
Finklham 90
Breitenaich, Intl 4075
Austria
Tel: ++43-7249-47795
Fax: (43) 7249-47752
Email: office@mps-austria.at
Internet: http://www.mps-austria.at/index.asp

MUMS National Parent-to-Parent Network
150 Custer Court
Green Bay, WI 54301-1243
USA
Tel: (920)336-5333
Fax: (920)339-0995
Tel: (877)336-5333
Email: mums@netnet.net
Internet: http://www.netnet.net/mums/

Belgian Association for Metabolic Diseases (BOKS)
Alice Nahonlann 7
Melsele, 9120
Belgium
Tel: 3237754839
Email: info@boks.be
Internet: http://www.boks.be

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
TDD: (888)205-3223
Email: ordr@od.nih.gov
Internet: http://rarediseases.info.nih.gov/Default.aspx

Instituto de Errores Innatos del Metabolismo
Carrera 7 No 40 - 62
Bogota,
Columbia
Tel: (571) 3208320
Email: abarrera@javeriana.edu.co
Internet: http://www.javeriana.edu.co

Let Them Hear Foundation
1900 University Avenue, Suite 101
East Palo Alto, CA 94303
Tel: (650)462-3143
Fax: (650)462-3144
Tel: (877)735-2929
Email: info@letthemhear.org
Internet: http://www.letthemhear.org

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
Internet: http://www.hideandseek.org

Sanfilippo Foundation Switzerland
c/o Nat Services SA- 2 Rue de jargonnant - Case Postale 6045
1211 Geneva 6
Switzerland
Tel: +41 78 720 73 17
Email: info@fondation-sanfilippo.ch
Internet: http://www.sanfilippo-foundation.org

For a Complete Report

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

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