Diseases & Conditions



Synonyms of Mucopolysaccharidoses
  • MPS
  • MPS Disorder

Disorder Subdivisions

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

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.

Organizations related to Mucopolysaccharidoses
  • Belgian Association for Metabolic Diseases (BOKS)
    Alice Nahonlann 7
    Melsele None 9120
    Phone #: 323-775-4839
    800 #: N/A
    e-mail: [email protected]
    Home page: http://www.boks.be
  • 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: [email protected]
    Home page: http://www.mpssociety.ca
  • Gesellschaft fur Mukopolysaccharidosen und ahuliche Erkrankungen
    Finklham 90
    Breitenaich Intl 4075
    Phone #: (43-) 7-249-47795
    800 #: --
    e-mail: [email protected]
    Home page: N/A
  • Hide & Seek Foundation for Lysosomal Disease Research
    4123 Lankershim Blvd.
    North Hollywood CA 91602-2828
    Phone #: 818-762-8621
    800 #: N/A
    e-mail: [email protected]
    Home page: http://www.hideandseek.org
  • Instituto de Errores Innatos del Metabolismo
    Carrera 7 No 43-82
    S.A. Edificio 53 Lab. 305A None None
    Phone #: 50 -1 3-208320
    800 #: N/A
    e-mail: [email protected]
    Home page: http://www.javeriana.edu.co
  • Let Them Hear Foundation
    1900 University Ave #101
    East Palo Alto CA 94303
    Phone #: 650-462-3143
    800 #: 877-735-2929
    e-mail: [email protected]
    Home page: http://www.letthemhear.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: [email protected]
    Home page: http://www.netnet.net/mums/
  • March of Dimes Birth Defects Foundation
    1275 Mamaroneck Avenue
    White Plains NY 10605
    Phone #: 914-428-7100
    800 #: 888-663-4637
    e-mail: [email protected]
    Home page: http://www.marchofdimes.com
  • NIH/National Institute of Diabetes, Digestive & Kidney Diseases
    Endocrine Diseases Metabolic Diseases Branch
    Bethesda MD 20892-3570
    Phone #: 301-654-3810
    800 #: --
    e-mail: [email protected]
    Home page: http://www.niddk.nih.gov
  • National Institute of Neurological Disorders and Stroke (NINDS)
    31 Center Drive
    Bethesda MD 20892-2540
    Phone #: 301-496-5751
    800 #: 800-352-9424
    e-mail: [email protected]
    Home page: http://www.ninds.nih.gov/
  • National MPS (Mucopolysaccharidoses/Mucolipidoses) Society, Inc.
    PO Box 14686
    Durham NC 27709-4686
    Phone #: 919-806-0101
    800 #: --
    e-mail: [email protected]
    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: [email protected]
    Home page: http://www.mpssociety.co.uk
  • Vaincre Les Maladies Lysosomales
    2 ter avenue de Fance
    Massy None 91300
    Phone #: 01 -69 -75 40 30
    800 #: --
    e-mail: [email protected]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