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    Maple Syrup Urine Disease

    Important
    It is possible that the main title of the report Maple Syrup Urine Disease 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

    • BCKD Deficiency
    • Branched Chain Alpha-Ketoacid Dehydrogenase Deficiency
    • Branched Chain Ketonuria I
    • Classical Maple Syrup Urine Disease
    • MSUD

    Disorder Subdivisions

    • Intermittent Maple Syrup Urine Disease
    • Intermediate Maple Syrup Urine Disease
    • Thiamine-Responsive Maple Syrup Urine Disease
    • Classic Maple Syrup Urine Disease

    General Discussion

    Maple syrup urine disease (MSUD) is a rare genetic disorder characterized by deficiency of certain enzymes (branched-chain alpha-keto acid dehydrogenase complex) required to breakdown (metabolize) specific amino acids in the body. Because these amino acids are not metabolized, they, along with their various byproducts, abnormally accumulate in the cells and fluids of the body. Such accumulation can cause a variety of symptoms including lethargy, irritability, poor feeding, abnormal movements and a characteristic odor of maple syrup in the earwax (cerumen), sweat and urine of affected individuals. In addition, if untreated various neurological complications including seizures, coma and brain damage may occur. Failure to promptly detect and treat MSUD can lead to life-threatening complications. However, the disorder can be successfully managed through a specialized diet. Even with treatment affected individuals remain at risk for developing episodes of acute illness (metabolic crisis) often triggered by infection, injury, failure to eat (fasting) or psychological stress. During these episodes there is a rapid, sudden spike in amino acid levels necessitating immediate medical intervention.

    At least four subtypes of MSUD have been identified in the medical literature. Some researchers include a fifth subtype, although other researchers consider this a separate distinct disorder. The various subtypes of MSUD have different levels of residual enzyme activity, different severity, and different ages of onset. All forms are inherited as autosomal recessive traits.

    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

    March of Dimes Birth Defects Foundation
    1275 Mamaroneck Avenue
    White Plains, NY 10605
    Tel: (914)997-4488
    Fax: (914)997-4763
    Tel: (888)663-4637
    Email: Askus@marchofdimes.com
    Internet: http://www.marchofdimes.com

    The Arc
    1825 K Street NW, Suite 1200
    Washington, DC 20006
    Tel: (202)534-3700
    Fax: (202)534-3731
    Tel: (800)433-5255
    TDD: (817)277-0553
    Email: info@thearc.org
    Internet: http://www.thearc.org

    NIH/National Institute of Diabetes, Digestive & Kidney Diseases
    Office of Communications & Public Liaison
    Bldg 31, Rm 9A06
    31 Center Drive, MSC 2560
    Bethesda, MD 20892-2560
    Tel: (301)496-3583
    Email: NDDIC@info.niddk.nih.gov
    Internet: http://www2.niddk.nih.gov/

    Maple Syrup Urine Disease Family Support Group
    9517 Big Bear Ave
    Powell, OH 43065
    United States
    Tel: (614)389-2739
    Email: dbulcher@aol.com
    Internet: http://www.msud-support.org/

    Belgian Association for Metabolic Diseases
    Alice Nahonlann 7
    Melsele, 9120
    Belgium
    Tel: 0498701503
    Fax: 037754839
    Email: info@boks.be
    Internet: http://www.boks.be/site/index.php/

    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/

    Madisons Foundation
    PO Box 241956
    Los Angeles, CA 90024
    Tel: (310)264-0826
    Fax: (310)264-4766
    Email: getinfo@madisonsfoundation.org
    Internet: http://www.madisonsfoundation.org

    Cook for Love, Inc.
    30 Seneca Street
    Dobbs Ferry, NY 10522
    Tel: (914)674-1025
    Email: info@cookforlove.org
    Internet: http://www.cookforlove.org

    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: 8/7/2007
    Copyright 1986, 1990, 1994, 1999, 2000, 2002, 2007 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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