Menkes syndrome is an inherited genetic disorder due to an abnormal gene, ATP7A. Menkes syndrome causes impaired copper absorption. This results in changes in the arteries and deterioration of the brain.
Menkes syndrome is rare. Most children born with Menkes syndrome have a life expectancy of less than 3-5 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.
Children with Menkes are often born prematurely. Symptoms usually begin within 3 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 IV copper acetate, oral copper supplements, or injections of copper histidinate may provide temporary benefit. Other treatments may be used to relieve symptoms.
National Institute of Neurological Disorders and Stroke
ORDR—Office of Rare Diseases Research
About Kids Health—The Hospital for Sick Children
CORD—Canadian Organization for Rare Disorders
Kaler SG. ATP7A-Related Copper Transport Disorders. GeneReviews website. Available at: http://www.ncbi.nlm.nih.gov/books/NBK1413. Updated October 14, 2010. Accessed August 6, 2015.
Menkes syndrome. Genetics Home Reference website. Available at: http://ghr.nlm.nih.gov/condition/menkes-syndrome. Updated March 2009. Accessed August 6, 2015.
NINDS Menkes disease information page. National Institute of Neurological Disorders and Stroke website. Available at: http://www.ninds.nih.gov/disorders/menkes/menkes.htm. Updated September 30, 2011. Accessed August 6, 2015.
Last reviewed August 2015 by Michael Woods, MD
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