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Menkes Disease: Condition Information

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Menkes disease is a genetic disorder that affects how copper moves through the body. It is caused by a change, or mutation, in the ATP7A gene.

The body needs copper for many activities, such as making myelin, the insulating material that surrounds certain types of brain and nerve cells. In Menkes, copper might build up in some areas, such as the kidneys, but might be too low in other areas, such as the brain. Without enough copper, brain cells and other tissues cannot make myelin and carry out other important functions.

Menkes is a neurodegenerative disease, meaning that the effects of the copper imbalance get worse over time. Typically, infants with Menkes disease appear healthy at birth and develop normally until about age 2 months to 3 months. Then they start to lose skills as the copper imbalance damages the nervous system. In rare cases and in milder forms of the disease—sometimes called occipital (pronounced ok-SIP-i-tl) horn syndrome (OHS)—symptoms begin later in childhood.1,2,3

  1. National Library of Medicine, Genetics Home Reference. (2009). Menkes syndrome. Retrieved May 22, 2012, from [top]
  2. National Institute of Neurological Disorders and Stroke. (2011). Menkes disease information page. Retrieved May 21, 2012, from [top]
  3. National Library of Medicine, MedlinePlus. (2011). Menkes syndrome. Retrieved May 21, 2012, from [top]

Last Reviewed: 08/14/2013
Vision National Institutes of Health Home BOND National Institues of Health Home Home Storz Lab: Section on Environmental Gene Regulation Home Machner Lab: Unit on Microbial Pathogenesis Home Division of Intramural Population Health Research Home Bonifacino Lab: Section on Intracellular Protein Trafficking Home Lilly Lab: Section on Gamete Development Home Lippincott-Schwartz Lab: Section on Organelle Biology