Diseases & Conditions


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Sly Syndrome


Synonyms of Sly Syndrome
  • Beta-Glucuronidase Deficiency
  • GUSB deficiency
  • MPS Disorder, type VII
  • MPS VII
  • mucopolysaccharidosis type VII

Disorder Subdivisions



    General Discussion
    Mucopolysaccharidoses, which are also known as mucopolysaccharide storage (MPS) diseases, are a group of rare genetic disorders caused by the deficiency of one of ten specific lysosomal enzymes. The lysosomes are particles bound in membranes within cells that break down certain fats and 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.

    Sly syndrome (MPS-VII) is an MPS storage disease caused by a deficiency of the enzyme beta-glucuronidase that leads to an accumulation of dermatan sulfate (DS), heparan sulfate (HS) and chondroitin sulfate (CS) in many tissues and organs of the body including the central nervous system.

    The clinical features of Sly syndrome vary from patient to patient, but all have short stature due to growth retardation, changes in bones visible on X-rays and some degree of mental retardation. Survival into adulthood is common with milder cases and osteoarthritis is a common complication.
    .


    The symptoms of Sly Syndrome are similar to those of Hurler Syndrome (MPS I) and the other Mucopolysaccharidoses. Symptoms may include mental retardation, short stature with an unusually short trunk, and/or abnormalities of the intestines, corneas of the eyes, and/or the skeletal system. Sly Syndrome is inherited as an autosomal recessive genetic trait.

    Organizations related to Sly Syndrome
    • 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
    • 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