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. 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.
Factors that increase your chance of getting Menkes syndrome include:
Children with Menkes are often born prematurely. Symptoms usually begin within three months after birth and may include:
Osteoporosis—Weakened Bone Matrix
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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
Office of Rare Diseases Research
About Kids Health
Canadian Organization for Rare Disorders
Menkes disease. NIH Office of Rate Diseases Research website. Available at: http://rarediseases.info.nih.gov/gard/1521/menkes-disease/resources/1 . Accessed July 25, 2013.
Menkes syndrome. Genetics Home Reference website. Available at: http://ghr.nlm.nih.gov/condition/menkes-syndrome . Updated March 2009. Accessed July 25, 2013.
Last reviewed July 2013 by Rimas Lukas, MD; Michael Woods, MD
Please be aware that this information is provided to supplement the care provided by your physician. It is neither intended nor implied to be a substitute for professional medical advice. CALL YOUR HEALTHCARE PROVIDER IMMEDIATELY IF YOU THINK YOU MAY HAVE A MEDICAL EMERGENCY. Always seek the advice of your physician or other qualified health provider prior to starting any new treatment or with any questions you may have regarding a medical condition.
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