Diseases & Conditions


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Glutaricaciduria II


Synonyms of Glutaricaciduria II
  • Electron Transfer Flavoprotein, Deficiency of
  • Electron Transfer Flavoprotein: Ubiquinone Oxidoreductase, Deficiency of
  • GA II
  • Glutaricacidemia II
  • Glutaric Acidemia II
  • Glutaric Aciduria II
  • MADD
  • Multiple Acyl-Co-A Dehydrogenation Deficiency

Disorder Subdivisions



    General Discussion
    Glutaricaciduria II is one of the conditions termed organic acidemias. Individuals with these conditions have a deficiency or absence of an enzyme that prevents them from breaking down certain chenicals in the body, resulting the accumulation of several organic acids in the blood and urine. Two enzymes that may be deficient in glutaricaciduria II are electron transfer flavoprotein (ETF) and ETF-ubiquinone oxidoreductase (ETF:QO). A complete enzyme deficiency causes a severe form of the disorder termed neonatal glutaricaciduria ll that is associated with a short life span and, sometimes, with specific physical birth defects. The less severe form of the disorder is termed late onset glutaricaciduria ll and has an extremely variable age of onset. Symptoms include nausea, vomiting, weakness and low blood sugar (hypoglycemia). Glutaricaciduria II is inherited as an autosomal recessive genetic disorder.

    Organizations related to Glutaricaciduria II
    • 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
    • FOD (Fatty Oxidation Disorders) Family Support Group
      2041 Tomahawk
      Okemos MI 48864
      Phone #: 517-381-1940
      800 #: --
      e-mail: deb@fodsupport.org
      Home page: http://www.fodsupport.org
    • International Organization of Glutaric Acidemia
      Rd #4, Box 299-A
      Blairsville PA 15717
      Phone #: 724-459-0179
      800 #: --
      e-mail: mmetil@helicon.net
      Home page: http://www.glutaricacidemia.org
    • Lactic Acidosis Support Trust
      1A Whitley Close
      Cheshire None CW10 0NQ
      Phone #: 016-068-3719
      800 #: --
      e-mail: N/A
      Home page: N/A
    • 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/
    • Organic Acidaemias UK
      5 Saxon Road
      Middlesex Intl TW15 1QL
      Phone #: 44--178-4-245989
      800 #: --
      e-mail: davidpriddy@bigfoot.com
      Home page: N/A
    • Organic Acidemia Association
      13210 35th Avenue North
      Plymouth MN 55441
      Phone #: 763-559-1797
      800 #: --
      e-mail: OAANews@aol.com
      Home page: http://www.oaanews.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