• Menkes Syndrome

    (Kinky Hair Disease; Steely Hair Disease; Trichopoliodystrophy; X-linked Copper Deficiency; Copper Transport Disease)

    Definition

    Menkes syndrome is an inherited genetic disorder due to an abnormal gene, ATP7A. Menkes syndrome causes impaired copper absorption. This results in arterial changes and deterioration of the brain.
    Menkes syndrome is rare. It occurs in 1 out of every 50,000-100,000 births. It affects primarily males. Most children born with Menkes syndrome have a life expectancy of 3 to 5 years.

    Causes

    Copper proteins are necessary for the body to build bone, nerves, and other tissue. Babies with Menkes syndrome have a genetic disorder that prevents the absorption of copper from the intestines and causes it to build up in excess amounts in the kidney, while remaining deficient in the liver and brain. This causes changes in the hair, brain, bones, liver, and arteries.

    Risk Factors

    A risk factor is something that increases your chance of getting a disease or condition. Risk factors for Menkes syndrome include:
    • Sex: male
    • Family members with Menkes syndrome

    Symptoms

    Children with Menkes are often born prematurely. Symptoms usually begin to show within three months after birth and may include:
    Osteoporosis—Weakened Bone Matrix
    Osteoporosis
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    Babies with Menkes syndrome often exhibit the following physical characteristics:
    • Hair that is stubby, tangled, sparse, lacking in color, and easily broken
    • Chubby cheeks
    • Flattened bridge of the nose
    • Face lacking in expression

    Diagnosis

    The following tests may be done to diagnose Menkes syndrome:
    • X-ray of the skull and skeleton to look for abnormalities in bone formation
    • Blood tests to measure copper levels

    Treatment

    There is no cure for Menkes syndrome. Early treatment with intravenous copper acetate, oral copper supplements, or injections of copper histidinate may provide temporary benefit. Other treatments may be used to relieve symptoms.

    Prevention

    There is no known way to prevent Menkes syndrome. If you have a family history of the disorder, you can talk to a genetic counselor when deciding whether to have children.

    RESOURCES

    MenkesSyndrome.com http://www.menkessyndrome.com

    National Institute of Neurological Disorders and Stroke http://www.ninds.nih.gov

    Office of Rare Diseases http://rarediseases.info.nih.gov

    CANADIAN RESOURCES

    About Kids Health http://www.aboutkidshealth.ca

    Canadian Organization for Rare Disorders http://www.cord.ca/

    References

    Harrison’s Principles of Internal Medicine . 14th ed. McGraw-Hill; 1998

    Textbook of Child Neurology . 4th ed. Lea & Febiger; 1990.

    Revision Information


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