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

Pseudo Hurler Polydystrophy


Synonyms of Pseudo Hurler Polydystrophy
  • Gangliosidosis GM1 Type 1
  • GLB1
  • ML Disorder III
  • ML III
  • Mucolipidosis III
  • Mucopolysaccharidosis VII
  • Pseudopolydystrophy
  • Pseudo-Polydystrophy

Disorder Subdivisions



    General Discussion
    Pseudo-Hurler polydystrophy (mucolipidosis type III) is a rare genetic metabolic disorder characterized by a defective enzyme known as UPD-N-acetylglucosamine-1-phosphotransferase. This defective enzyme ultimately results in the accumulation of certain complex carbohydrates (mucopolysaccharides) and fatty substances (mucolipids) in various tissues of the body. The symptoms of this disorder are similar, but less severe than those of I-cell disease (mucolipidosis type II) and may include progressive joint stiffness, curvature of the spine (scoliosis), and/or skeletal deformities of the hands (e.g., claw-hands). Growth delays accompanied by deterioration of the hip joints typically develop in children with pseudo-Hurler polydystrophy. Additional symptoms may include clouding of the corneas of the eyes, mild to moderate coarseness of facial features, mild mental retardation, easy fatigability, and/or heart disease. Pseudo-Hurler polydystrophy is inherited as an autosomal recessive trait.

    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. Defective lysosomal enzymes associated with pseudo-Hurler polydystrophy leads to the accumulation of certain fatty substances (mucolipids) and certain complex carbohydrates (mucopolysaccharides) within the cells of many tissues of the body.

    Organizations related to Pseudo Hurler Polydystrophy
    • 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