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Menkes syndrome is an inborn error of metabolism in which cells in the body cannot absorb enough copper.
Steely hair disease; Menkes kinky hair syndrome; Kinky hair disease
Menkes syndrome is caused by a defect in the ATP7A gene. The defect makes it hard for the body to distribute and absorb copper. As a result, the brain and other parts of the body do not get enough copper.
Low copper levels can affect the structure of bone, skin, hair, and blood vessels and interfere with nerve function. Copper also builds up in the small intestine and kidneys.
Menkes syndrome is inherited, which means it runs in families.
Exams and Tests
There is often a history of Menkes syndrome in a male relative.
- Abnormal appearance of the hair under the microscope
- Abnormally low body temperature
- Bleeding in the brain
- Slow growth in the womb
In males, all of the hairs will be abnormal. In females who carry this trait, only half of the hairs may be abnormal.
- Serum ceruloplasmin
- Serum copper level
- Skin cell (fibroblast) culture
- X-ray of the skeleton or x-ray of the skull
Genetic testing may show a change (mutation) in the ATP7A gene.
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.
Most persons with this condition die within the first few years of life.
When to Contact a Medical Professional
Talk to your health care provider if you have a family history of Menkes syndrome and you plan to have children. A baby with this condition will often show symptoms early in infancy.
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.
Reviewed By: Chad Haldeman-Englert, MD, Wake Forest School of Medicine, Department of Pediatrics, Section on Medical Genetics, Winston-Salem, NC. Review provided by VeriMed Healthcare Network. Also reviewed by David Zieve, MD, MHA, Medical Director, A.D.A.M., Inc.