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    Tyrosinemia Type 1

    Important
    It is possible that the main title of the report Tyrosinemia Type 1 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

    Disorder Subdivisions

    • None

    General Discussion

    Tyrosinemia type I is a rare autosomal recessive genetic metabolic disorder characterized by lack of the enzyme fumarylacetoacetate hydrolase (FAH), which is needed for the final break down of the amino acid tyrosine. Failure to properly break down tyrosine leads to abnormal accumulation of tyrosine and its metabolites in the liver, potentially resulting in severe liver disease. Tyrosine may also accumulate in the kidneys and central nervous system.

    Symptoms and physical findings associated with tyrosinemia type I appear in the first months of life and include failure to gain weight and grow at the expected rate (failure to thrive), fever, diarrhea, vomiting, an abnormally enlarged liver (hepatomegaly), and yellowing of the skin and the whites of the eyes (jaundice). Tyrosinemia type I may progress to more serious complications such as severe liver disease, cirrhosis, and hepatocarcinoma if left untreated. Treatment with nitisinone and a low-tyrosine diet should begin as soon as possible after the diagnosis is confirmed.

    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

    American Liver Foundation
    39 Broadway, Suite 2700
    New York, NY 10006
    USA
    Fax: (212)483-8179
    Tel: (800)465-4837
    Email: http://www.liverfoundation.org/contact/
    Internet: http://www.liverfoundation.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/

    Hereditary Tyrosinemia Group (Groupe Aide Aux Enfants Tyrosinemiques Du Quebec)
    3162 rue Granville
    Jonquiere
    Quebec, G7S 2B9
    Canada
    Tel: 4185481580
    Email: gerard.tremblay@sympatico.ca
    Internet: http://www.cegep-chicoutimi.qc.ca/gaetq/

    Save Babies Through Screening Foundation
    P.O. Box 42197
    Cincinnati, OH 45242
    USA
    Tel: (610)251-9876
    Fax: (610)647-5757
    Tel: (888)454-3383
    Email: email@savebabies.org
    Internet: http://www.savebabies.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

    Joshua's Cure
    P.O. Box 1106
    Cary, NC 27511-1106
    Tel: (919) 567-1922
    Email: mike@joshuascure.org
    Internet: http://www.joshuascure.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: 5/10/2010
    Copyright 1987, 1988, 1990, 1992, 1994, 1995, 1996, 1999, 2000, 2002, 2003, 2010 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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