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 < 4 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. It causes copper deficiency in the liver and brain, but excess amounts in the kidney. This causes changes in the hair, brain, bones, liver, and arteries.
Children with Menkes are often born prematurely. Symptoms usually begin within 2-3 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:
Other testing may include:
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—The Hospital for Sick Children
Canadian Organization for Rare Disorders
Copper deficiency. EBSCO DynaMed Plus website. Available at: http://www.dynamed.com/topics/dmp~AN~T113792/Copper-deficiency. Updated June 15, 2017. Accessed August 24, 2017.
ATP7A-Related Copper Transport Disorders. GeneReviews website. Available at: http://www.ncbi.nlm.nih.gov/books/NBK1413. Updated August 18, 2016. Accessed August 24, 2017.
Menkes Disease. National Organization of Rare Disorders website. Available at: https://rarediseases.org/rare-diseases/menkes-disease/. Published 2008. Accessed August 24, 2017.
Menkes Disease. The Menkes Foundation website. Available at: http://themenkesfoundation.org/research/overview.html. Accessed August 24, 2017.
Menkes Disease. Online Mendelian Inheritance in Man website. Available at: https://www.omim.org/entry/309400. Updated August 9, 2016. Accessed August 24, 2017.
Last reviewed September 2017 by EBSCO Medical Review BoardMichael Woods, MD, FAAP
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