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.
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.
A risk factor is something that increases your chance of getting a disease or condition. Risk factors for Menkes syndrome include:
Children with Menkes are often born prematurely. Symptoms usually begin to show within three months after birth and may include:
Babies with Menkes syndrome often exhibit the following physical characteristics:
The following tests may be done to diagnose Menkes syndrome:
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.
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.
National Institute of Neurological Disorders and Stroke
Office of Rare Diseases
About Kids Health
Canadian Organization for Rare Disorders
Harrison’s Principles of Internal Medicine . 14th ed. McGraw-Hill; 1998
Textbook of Child Neurology . 4th ed. Lea & Febiger; 1990.
Last reviewed September 2012 by Rimas Lukas, MD
Last Updated: 09/12/2012
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