Menkes syndrome is inherited as an X-linked recessive disorder. The disorder is related to deficient levels of copper in the cells.

See a genetic counselor if you want to have children and you have a family history of Menkes syndrome. Maternal relatives of a boy with this syndrome should be seen by a geneticist to find out if they are carriers.

There is often a history of Menkes syndrome in a male relative. Signs include slow growth in the womb, abnormally low body temperature, bleeding in the brain, and abnormal appearance of the hair under the microscope. In males, all of the hairs will be abnormal, but in females who carry this trait, only half of the hairs may be abnormal.

Some of the tests that may be done include:

• X-ray of the skeleton or x-ray of the skull
• Serum copper level
• Skin cell (fibroblast) culture
• Serum ceruloplasmin

Genetic testing may show mutation in the ATP7A gene

Most persons with this condition die within the first few years of life.

Treatment usually only helps when started very early in the course of the disease. Injections of copper into a vein or under the skin have been used with mixed results.

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