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
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