Menkes syndrome is an inherited genetic disorder due to an abnormal gene, ATP7A. Menkes syndrome causes impaired copper absorption. This results in arterial changes and deterioration of the brain.
Menkes syndrome is rare. It occurs in 1 out of every 50,000-100,000 births. It affects primarily males. Most children born with Menkes syndrome have a life expectancy of 3 to 5 years.
Copper proteins are necessary for the body to build bone, nerves, and other tissue. Babies with Menkes syndrome have a genetic disorder that causes copper to build up in excess amounts in the kidney, while remaining deficient in the liver and brain. This causes changes in the hair, brain, bones, liver, and arteries.
A risk factor is something that increases your chance of getting a disease or condition. Risk factors for Menkes syndrome include:
Family members with Menkes syndrome
Children with Menkes are often born prematurely. Symptoms usually begin to show within three months after birth and may include:
of the skull and skeleton to look for abnormalities in bone formation
Blood tests to measure copper levels
There is no cure for Menkes syndrome. Early treatment with intravenous copper acetate, oral copper supplements, or injections of copper histidinate may provide temporary benefit. Other treatments may be used to relieve symptoms.
There is no known way to prevent Menkes syndrome. If you have a family history of the disorder, you can talk to a genetic counselor when deciding whether to have children.
Please be aware that this information is provided to supplement the care
provided by your physician. It is neither intended nor implied to be a
substitute for professional medical advice. CALL YOUR HEALTHCARE PROVIDER
IMMEDIATELY IF YOU THINK YOU MAY HAVE A MEDICAL EMERGENCY. Always seek the
advice of your physician or other qualified health provider prior to
starting any new treatment or with any questions you may have regarding a