1. Should everyone's copper metabolism be evaluated?
General screening for copper concentrations is not recommended or necessary. Many people with conditions not associated with copper, such as people with infections or inflammation, may have temporarily increased concentrations.
Menkes kinky hair syndrome, also called copper transport disease, is a rare inherited disorder that causes a deficiency in copper. The syndrome is caused by mutations in the ATP7Agene located on the X chromosome. It is passed from parent to child in an X-linked recessive manner. This means that girls must inherit two copies of the mutated gene in order to be affected. Because boys only have one X chromosome, they can be affected if the mutation is present on the one X chromosome.
The mutation leads to uneven distribution of copper in the body. It may build up in tissues of the intestines and kidneys, for example, but may be deficient in areas such as the brain. Symptoms of the syndrome typically develop in infancy and many children die at a young age. Signs and symptoms include sparse, kinky hair, failure to grow at an expected rate and developmental delay, nervous system deterioration, weak muscle tone and seizures. The incidence of this syndrome is about 1 in 100,000 infants.
This article was last reviewed on March 10, 2015. | This article was last modified on March 10, 2015.
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