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    Glutaricaciduria II

    Important
    It is possible that the main title of the report Glutaricaciduria II is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report.

    Synonyms

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

    Disorder Subdivisions

    • None

    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.

    Resources

    CLIMB (Children Living with Inherited Metabolic Diseases)
    Climb Building
    176 Nantwich Road
    Crewe, CW2 6BG
    United Kingdom
    Tel: 4408452412173
    Fax: 4408452412174
    Email: enquiries@climb.org.uk
    Internet: http://www.CLIMB.org.uk

    Lactic Acidosis Support Trust
    1A Whitley Close
    Middlewich
    Cheshire, CW10 0NQ
    United Kingdom
    Tel: 0160683719
    Fax: 01606837198

    Organic Acidemia Association
    P.O. Box 1008
    Pinole, CA 94564
    USA
    Tel: (763)559-1797
    Fax: (763)694-0017
    Email: carolbarton@oaanews.org
    Internet: http://www.oaanews.org/index.htm

    Organic Acidaemias UK
    5, Saxon Road
    Ashford
    Middlesex, TW15 1QL
    United Kingdom
    Tel: 4401784245989
    Email: info.oauk@gmail.com
    Internet: http://myweb.tiscali.co.uk/priddy/

    FOD (Fatty Oxidation Disorders) Family Support Group
    PO Box 54
    Okemos, MI 48864
    USA
    Tel: (517)381-1940
    Fax: (866)290-5206
    Email: deb@fodsupport.org
    Internet: http://www.fodsupport.org

    Genetic and Rare Diseases (GARD) Information Center
    PO Box 8126
    Gaithersburg, MD 20898-8126
    Tel: (301)251-4925
    Fax: (301)251-4911
    Tel: (888)205-2311
    TDD: (888)205-3223
    Internet: http://rarediseases.info.nih.gov/GARD/

    For a Complete Report:

    This is an abstract of a report from the National Organization for Rare Disorders (NORD). A copy of the complete report can be downloaded free from the NORD website for registered users. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational therapies (if available), and references from medical literature. For a full-text version of this topic, go to www.rarediseases.org and click on Rare Disease Database under "Rare Disease Information".

    The information provided in this report is not intended for diagnostic purposes. It is provided for informational purposes only. NORD recommends that affected individuals seek the advice or counsel of their own personal physicians.

    It is possible that the title of this topic is not the name you selected. Please check the Synonyms listing to find the alternate name(s) and Disorder Subdivision(s) covered by this report

    This disease entry is based upon medical information available through the date at the end of the topic. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder.

    For additional information and assistance about rare disorders, please contact the National Organization for Rare Disorders at P.O. Box 1968, Danbury, CT 06813-1968; phone (203) 744-0100; web site www.rarediseases.org or email orphan@rarediseases.org

    Last Updated: 5/10/2008
    Copyright 1987, 1988, 1990, 1992, 1997, 2004 National Organization for Rare Disorders, Inc.

    WebMD Medical Reference from the National Organization for Rare Disorders

    Last Updated: May 28, 2015
    This information is not intended to replace the advice of a doctor. Healthwise disclaims any liability for the decisions you make based on this information.

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