Menkes Disease

Menkes disease is a rare problem in which the body cannot use copper properly. It is caused by malfunctioning of the ATP7A gene. In Menkes disease, copper is lacking in the hair, brain, bones, liver, and arteries, causing life-threatening problems. Menkes disease is inherited from the mother, who is a carrier for the disease. The mother has no symptoms. Daughters of a mother who is a carrier have a 50% chance of being a carrier. Half of boys born to a mother who is a carrier will have Menkes disease and will not live long enough to have children.


  • Seizures. Seizures associated with Menkes disease are very difficult to control. Most children with the disease will have many seizures each day, even if they take medications to control the seizures.

  • Severe developmental delay. Children with Menkes disease never develop mental abilities beyond those of a newborn child.

  • Cerebral palsy, with symptoms that include:

  • Low muscle strength and tone (how the muscle feels when it is at rest).

  • The inability to sit or crawl.

  • Failure to thrive:

  • Poor weight gain.

  • Progressive problems with eating and the eventual need for a feeding tube in order to survive.

  • Below normal body temperature.

  • Weakened bones that lead to fractures.

  • Bleeding around the brain.

  • Pilli torti. This is abnormal hair that is often white, ivory, or gray in color and is kinky, tangled, sparse, steely, and easily broken.


Diagnosis is based on results of the following tests:

  • A 24-hour urine copper test to look for low amounts of copper.

  • An evaluation of ceruloplasmin levels. This is a protein that carries copper. Low levels indicate Menkes disease.

  • Genetic testing of the ATP7A gene.

  • Hair analysis to look for pilli torti.


Early treatment with injections or oral copper supplements have limited benefit. Treatment is directed at whichever symptom is causing problems. For example, if a child is unable to swallow, a feeding tube will be placed. The following therapies to maximize the abilities of children with Menkes disease:

  • Physical therapy helps with poor coordination of the large muscles.

  • Occupational therapy helps with poor coordination of smaller muscles, such as muscles in the hand.

  • Support groups help families to meet other families with the same disease.