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    Menkes Disease

    Important
    It is possible that the main title of the report Menkes 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

    • Kinky Hair Disease
    • Steely Hair Disease
    • Trichopoliodystrophy
    • X-linked Copper Deficiency
    • Copper Transport Disease

    Disorder Subdivisions

    • X-linked Copper Malabsorption
    • Neurodegenerative disease

    General Discussion

    Menkes disease is a genetic disorder of copper metabolism that is detectable before birth (prenatally) and which follows a progressively degenerative path involving several organs of the body but especially the brain. It is characterized by seizures, mental retardation, stunted growth, failure to thrive, unstable body temperature, and very unusual color and texture of hair.

    It is the failure of the copper transport systems within the cell and then across the cell membrane that is responsible for the symptoms of the disorder. Because of the failure of this transport system, copper is unavailable to various cells where it is essential for the structure and function of various enzymes that control the development of hair, brain, bones, liver and arteries.

    Menkes disease is an X-linked genetic disorder caused by mutations in the ATP7A gene that is responsible for production of the ATPase enzyme that regulates copper levels in the body. Variants of Menkes that are caused by mutations in the ATP7A gene but result in less severe symptoms include mild Menkes disease and occipital horn syndrome.

    Resources

    NIH/National Institute of Neurological Disorders and Stroke
    P.O. Box 5801
    Bethesda, MD 20824
    Tel: (301)496-5751
    Fax: (301)402-2186
    Tel: (800)352-9424
    TDD: (301)468-5981
    Internet: http://www.ninds.nih.gov/

    Coalition for Heritable Disorders of Connective Tissue (CHDCT)
    4301 Connecticut Avenue, NW Suite 404
    Washington, DC 20008
    Tel: (202)362-9599
    Fax: (202)966-8553
    Tel: (800)778-7171
    Email: chdct@pxe.org
    Internet: http://www.chdct2.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/

    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

    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: 2/11/2008
    Copyright 1989, 1992, 1993, 1994, 1996, 2004, 2008 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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