Diseases & Conditions


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Andersen Disease (GSD IV)


Synonyms of Andersen Disease (GSD IV)
  • Amylopectinosis
  • Andersen Glycogenosis
  • Brancher Deficiency
  • Branching Enzyme Deficiency
  • Glycogenosis Type IV
  • Glycogen Storage Disease IV

Disorder Subdivisions



    General Discussion
    Andersen disease belongs to a group of rare genetic disorders of glycogen metabolism, known as glycogen storage diseases. Glycogen is a complex carbohydrate that is converted into the simple sugar glucose for the body's use as energy. Glycogen storage diseases are characterized by deficiencies of certain enzymes involved in the metabolism of glycogen, leading to an accumulation of abnormal forms or amounts of glycogen in various parts of the body, particularly the liver and muscle.

    Andersen disease is also known as glycogen storage disease (GSD) type IV. It is caused by deficient activity of the glycogen-branching enzyme, resulting in accumulation of abnormal glycogen in the liver, muscle, and/or other tissues. In most affected individuals, symptoms and findings become evident in the first months of life. Such features typically include failure to grow and gain weight at the expected rate (failure to thrive) and abnormal enlargement of the liver and spleen (hepatosplenomegaly). In such cases, the disease course is typically characterized by progressive liver (hepatic) scarring (cirrhosis) and liver failure, leading to potentially life-threatening complications. In rare cases, however, progressive liver disease may not develop. In addition, several neuromuscular variants of Andersen disease have been described that may be evident at birth, in late childhood, or adulthood. The disease is inherited as an autosomal recessive trait.
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    Organizations related to Andersen Disease (GSD IV)
    • APBD Research Foundation
      8 West 37th Street
      New York NY 10018
      Phone #: 212-643-1221
      800 #: N/A
      e-mail: info@APBDRF.org
      Home page: http://www.apbdrf.org
    • Association for Glycogen Storage Disease
      P.O. Box 896
      Durant IA 52747
      Phone #: 563-785-6038
      800 #: --
      e-mail: maryc@agsdus.org
      Home page: http://www.agsdus.org
    • 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
    • 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

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