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Genetics of Menkes Syndrome

written by: R. Elizabeth C. Kitchen•edited by: Emma Lloyd•updated: 7/21/2010

Does Menkes syndrome run in your family? If so, read on to learn more about the genetics of this syndrome, as well as the symptoms, treatment, and prognosis.

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    Menkes syndrome, also known as Menkes kinky hair syndrome, is a genetic disorder in which the body's copper levels are affected. Children born with this disorder will start to have symptoms as infants and will often not live longer than three years of age. In rare cases, some patients will not start to have symptoms until later in their childhood. If treatment begins early, the prognosis will be better for some patients.

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    How Common is this Genetic Disorder?

    This genetic disorder affects about one in 100,000 newborn babies. Affected individuals include those with Menkes kinky hair syndrome and its less severe form, which is known as occipital horn syndrome.

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    Genetics of Menkes Syndrome

    Menkes syndrome ATP7A gene mutations are responsible for causing this syndrome. This gene is responsible for giving the instructions necessary for creating a protein that is essential for regulating the body's copper levels. When this gene is mutated, copper in the body is poorly distributed to the cells in the body. An X-linked recessive pattern is responsible for inheriting this genetic disorder.

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    Symptoms

    This genetic disorder causes a number of symptoms that range in severity. These symptoms can appear in those who begin to experience symptoms during infancy, as well as in those who start to experience symptoms a little later in life. The symptoms of this genetic disorder include:

    • Bone spurs
    • Feeding difficulties
    • Lack of muscle tone and/or floppiness
    • Mental deterioration
    • Seizures
    • Brittle, kinky hair
    • Irritability
    • Low body temperature
    • Rosy, pudgy cheeks
    • Skeletal changes
    • Death
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    Diagnosing this Genetic Disorder

    Those who have Menkes syndrome often have a male relative who also had this disorder. When children with this disorder are still in the womb, they often grow slowly. Doctors will also look for bleeding in the brain and an unusually low body temperature. When the patient's hair is looked at under a microscope it will have an abnormal appearance. Males will have all abnormal hairs, while females will only have half of their hair appear abnormal.

    Diagnostic tests that can be done include:

    • Genetic testing to look for an ATP7A gene mutation
    • Serum ceruloplasmin
    • Skin cell culture
    • Serum copper level
    • Skull or skeleton x-rays
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    How is this Syndrome Treated?

    Treatment only seems to help when it is begun very early in the disorder. Injecting copper under the patient's skin or into their vein is something that can be done, but the results are mixed.

    Some of the symptoms can be individually treated, but this may not be a good idea for some patients due to being weak and very sick from this genetic disorder. Possible treatments for symptoms include:

    • Surgery is an option for bone spurs
    • Anti-seizure medications may be helpful in stopping or reducing seizures
    • If feeding is difficult, a feeding tube is an option
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    Resources

    Genetics Home Reference. (2010). Menkes Syndrome. Retrieved on July 15, 2010 from Genetics Home Reference: http://ghr.nlm.nih.gov/condition/menkes-syndrome

    Medline Plus. (2009). Menkes Syndrome. Retrieved on July 15, 2010 from Medline Plus: http://www.nlm.nih.gov/medlineplus/ency/article/001160.htm

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    Image Credits

    DNA: svilen001 – sxc.hu