Sunday, March 16, 2008

Menkes Syndrome

What is Menkes syndrome?

Menkes syndrome is a genetic disorder that impacts how well the body stores and distributes copper.

Menkes is caused by a mutation in the ATP7A gene that results in poor distribution of copper through the body. Copper builds up in some tissues, such as the small intestine and kidneys, while areas like the brain and liver don’t get enough copper.

Menkes syndrome is an X-linked recessive disorder, meaning that the mutated ATP7A gene is on the X chromosome and the condition is usually inherited. Males are affected by Menkes more often than females. About one-third of Menkes cases result from a spontaneous mutation in the gene, meaning that it occurs without warning and is not inherited.

Occipital horn syndrome is a less severe from of Menkes syndrome that begins in early to middle childhood.

What are the symptoms of Menkes syndrome?

Symptoms of Menkes, which appear during infancy, include normal development for 2 to 3 months, followed by a period of severe developmental delay and a loss of developmental skills.

Other symptoms may include:

  • * Sparse, kinky, coarse hair
  • * Failure to thrive
  • * Deterioration of the nervous system
  • * Weak muscle tone and sagging facial features
  • * Seizures
  • * Lower than normal body temperature
  • * Weakened bones that can result in fractures
  • * Pudgy, rosy cheeks


The prognosis for people with Menkes syndrome is poor, and most children with the disorder die within the first few years of life.

What is the treatment for Menkes syndrome?

The most common treatment for Menkes is copper injection therapy, but the studies of the treatment show mixed results. In general, the earlier the copper therapy is received, the better the results. Also, people with ATP7A mutations that don’t completely stop the copper transport in the body respond better to treatment than those with mutations causing absolutely no activity.

In addition to copper therapy, physical and occupational therapy can help maximize developmental potential, and nutritionists can recommend the best diet.

For more information about treatments for Menkes syndrome, talk to your health care provider.

Institute of Child Health and Human Development.