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

I Cell Disease


Synonyms of I Cell Disease
  • GNPTA
  • Inclusion Cell Disease
  • Leroy Disease
  • ML Disorder, Type II
  • ML II
  • Mucolipidosis II
  • N-Acetylglucosamine-1-Phosphotransferase Deficiency

Disorder Subdivisions



    General Discussion
    I-cell disease (mucolipidosis II) is a rare inherited metabolic disorder characterized by coarse facial features, skeletal abnormalities and mental retardation. The symptoms of I-cell disease are similar to but more severe than those of Hurler syndrome. The symptoms associated with this disorder typically become obvious during infancy and may include multiple abnormalities of the skull and face and growth delays.

    This disorder belongs to a group of diseases known as lysosomal storage disorders. Lysosomes are particles bound in membranes within cells that break down certain fats and carbohydrates. Multiple enzyme deficiencies associated with I-cell disease lead to the accumulation of certain fatty substances (mucolipids) and certain complex carbohydrates (mucopolysaccharides) within the cells of many tissues of the body.

    I-cell disease is caused by a mutation in the GNPTA gene that leads to a deficiency in the enzyme UDP-N-acetylglucoseamine-1-phosphotransferase. I-cell disease is inherited as an autosomal recessive genetic trait.
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    Organizations related to I Cell Disease
    • 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
    • International Society for Mannosidosis & Related Diseases, Inc.
      1030 Saxon Hill Drive
      Cockeysville MD 21030
      Phone #: 410-628-9991
      800 #: N/A
      e-mail: pres@mannosidosis.org
      Home page: http://www/mannosidosis.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/
    • NIH/National Digestive Diseases Information Clearinghouse
      2 Information Way
      Bethesda MD 20892-3570
      Phone #: 301-654-3810
      800 #: 800-891-5389
      e-mail: nddic@info.niddk.nih.gov
      Home page: http://www.niddk.nih.gov
    • 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/
    • Vaincre Les Maladies Lysosomales
      2 ter avenue de Fance
      Massy None 91300
      Phone #: 01 -69 -75 40 30
      800 #: --
      e-mail: accueil@vml-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