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    Menkes syndrome

    Steely hair disease; Menkes kinky hair syndrome; Kinky hair disease

    Menkes syndrome is an inborn error of metabolism in which cells in the body can absorb copper, but are unable to release it.

    Causes

    Menkes syndrome is caused by a defect in the ATP7A gene. The defect makes it hard for the body to distribute copper in food from the intestines into the bloodstream for use in other areas. As a result, the brain and other parts of the body do not get enough copper.

    Copper can build up in the small intestine and kidneys, but low copper levels in other areas can affect the structure of bone, skin, hair, and blood vessels, and interfere with nerve function.

    Menkes syndrome is inherited, which means it runs in families.The gene is on the X-chromosome, so if a mother carries the defective gene, each of her sons has a 50% chance of developing the disease and 50% of her daughters will be a carrier.

    Symptoms

    • Bone spurs
    • Brittle, kinky hair
    • Feeding difficulties
    • Irritability
    • Lack of muscle tone, floppiness (hypotonia)
    • Low body temperature
    • Mental deterioration
    • Pudgy, rosy cheeks
    • Seizures
    • Skeletal changes

    Exams and Tests

    There is often a history of Menkes syndrome in a male relative.

    Signs include:

    • Abnormal appearance of the hair under the microscope
    • Abnormally low body temperature
    • Bleeding in the brain
    • Slow growth in the womb

    In males, all of the hairs will be abnormal. In females who carry this trait, only half of the hairs may be abnormal.

    Tests may include:

    • Serum ceruloplasmin
    • Serum copper level
    • Skin cell (fibroblast) culture
    • X-ray of the skeleton or x-ray of the skull

    Genetic testing may show a change (mutation) in the ATP7A gene.

    Treatment

    Treatment usually only helps when started very early in the course of the disease. Injections of copper into a vein or under the skin have been used with mixed results.

    Outlook (Prognosis)

    Most persons with this condition die within the first few years of life.

    • Seizures
    • Death

    When to Contact a Medical Professional

    Talk to your health care provider if you have a family history of Menkes syndrome and you plan to have children. A baby with this condition will often show symptoms early in infancy.

    Prevention

    See a genetic counselor if you want to have children and you have a family history of Menkes syndrome. Maternal relatives of a boy with this syndrome should be seen by a geneticist to find out if they are carriers.

    References

    Bierings M, Clayton P, Houwen RHJ. Disorders in the Transport of Copper, Iron, Magnesium, Manganese, Selenium, and Zinc. In: Saudubray J-M, van den Berghe G, Walter JH, eds. Inborn Metabolic Diseases: Diagnosis and Treatment. 5th ed. New York, NY: Springer; 2012:chap 38.

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    • Hypotonia

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      • Hypotonia

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          Tests for Menkes syndrome

            Review Date: 5/7/2013

            Reviewed By: Chad Haldeman-Englert, MD, FACMG, Wake Forest School of Medicine, Department of Pediatrics, Section on Medical Genetics, Winston-Salem, NC. Review provided by VeriMed Healthcare Network. Also reviewed by David Zieve, MD, MHA, Bethanne Black, and the A.D.A.M. Editorial team.

            The information provided herein should not be used during any medical emergency or for the diagnosis or treatment of any medical condition. A licensed medical professional should be consulted for diagnosis and treatment of any and all medical conditions. Links to other sites are provided for information only -- they do not constitute endorsements of those other sites. © 1997- A.D.A.M., Inc. Any duplication or distribution of the information contained herein is strictly prohibited.
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