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Glutaricaciduria II

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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.
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Organizations related to Glutaricaciduria II
  • CLIMB (Children Living with Inherited Metabolic Diseases)
    Climb Building
    176 Nantwich Road
    Crewe Intl CW2 6BG
    Phone #: 084-5 2-41 2174
    800 #: 080-0 6-52 3181
    e-mail: info.svcs@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
  • Genetic and Rare Diseases (GARD) Information Center
    PO Box 8126
    Gaithersburg MD 20898-8126
    Phone #: 301-251-4925
    800 #: 888-205-2311
    e-mail: http://rarediseases.info.nih.gov/GARD/EmailForm.aspx
    Home page: http://rarediseases.info.nih.gov/GARD
  • 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
    Middlewich
    Cheshire None CW10 0NQ
    Phone #: 016-068-3719
    800 #: --
    e-mail: N/A
    Home page: N/A
  • MUMS 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
    Ashford
    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

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Last modified Wednesday, November 26, 2008