Diseases & Conditions


A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

Mucopolysaccharidosis Type I


Synonyms of Mucopolysaccharidosis Type I
  • Gargoylism
  • Hurler Disease
  • MPS Disorder I
  • MPS I

Disorder Subdivisions

  • Hurler-Scheie Syndrome (MPS IH/S)
  • Hurler Syndrome (MPS IH)
  • Scheie Syndrome (MPS IS)


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.
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Organizations related to Mucopolysaccharidosis Type I
  • CLIMB (Children Living with Inherited Metabolic Diseases)
    Climb Building
    Crewe Intl CW2 6BG
    Phone #: +44- 87-0 7700 325
    800 #: --
    e-mail: info@climb.org.uk
    Home page: http://www.CLIMB.org.uk
  • 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: lori.mps@rogers.com
    Home page: http://www.mpssociety.ca
  • Hide & Seek Foundation for Lysosomal Disease Research
    4123 Lankershim Blvd.
    North Hollywood CA 91602-2828
    Phone #: 818-762-8621
    800 #: N/A
    e-mail: info@hideandseek.org
    Home page: http://www.hideandseek.org
  • Let Them Hear Foundation
    1900 University Ave #101
    East Palo Alto CA 94303
    Phone #: 650-462-3143
    800 #: 877-735-2929
    e-mail: info@letthemhear.org
    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: mums@netnet.net
    Home page: http://www.netnet.net/mums/
  • Madisons Foundation
    PO Box 241956
    Los Angeles CA 90024
    Phone #: 310-264-0826
    800 #: N/A
    e-mail: getinfo@madisonsfoundation.org
    Home page: http://www.madisonsfoundation.org
  • National MPS (Mucopolysaccharidoses/Mucolipidoses) Society, Inc.
    PO Box 14686
    Durham NC 27709-4686
    Phone #: 919-806-0101
    800 #: --
    e-mail: info@mpssociety.org
    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: mps@mpssociety.co.uk
    Home page: http://www.mpssociety.co.uk
  • The Arc (a national organization on mental retardation)
    1010 Wayne Ave
    Silver Spring MD 20910
    Phone #: 301-565-3842
    800 #: 800-433-5255
    e-mail: info@thearc.org
    Home page: http://www.thearc.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