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

Glycogen Storage Disease VIII


Synonyms of Glycogen Storage Disease VIII
  • Glycogenosis Type VIII
  • Hepatic Phosphorylase Kinase Deficiency
  • Phosphorylase Kinase Deficiency of Liver
  • PYKL

Disorder Subdivisions



    General Discussion
    Glycogen storage disease VIII is one of a group of hereditary disorders caused by a lack of one or more enzymes involved in glycogen synthesis or breakdown and characterized by deposition of abnormal amounts or types of glycogen in tissues. Excessive amounts of glycogen (which acts to store energy for later use) are deposited in the liver, causing it to become enlarged (hepatomegaly).
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    Organizations related to Glycogen Storage Disease VIII
    • Association for Glycogen Storage Disease (UK)
      9 Lindop Road
      Cheshire None WA159DZ
      Phone #: 161-980-7303
      800 #: --
      e-mail: president@agsd.org.uk
      Home page: http://www.agsd.org.uk
    • 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
    • Children's Liver Alliance
      None
      None IN None
      Phone #: N/A
      800 #: --
      e-mail: mail@liverkids.org.au
      Home page: http://www.liverkids.org.au
    • March of Dimes Birth Defects Foundation
      1275 Mamaroneck Avenue
      White Plains NY 10605
      Phone #: 914-428-7100
      800 #: 888-663-4637
      e-mail: Askus@marchofdimes.com
      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: NDDIC@info.niddk.nih.gov
      Home page: http://www.niddk.nih.gov



    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