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Alternative Names Return to topSteely hair disease; Menkes kinky hair syndrome; Kinky hair disease
Definition Return to top
Menkes syndrome is an inborn error of metabolism in which cells in the body cannot absorb enough copper.
Causes Return to top
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.
Symptoms Return to top
Exams and Tests Return to top
There is often a history of Menkes syndrome in a male relative.
In males, all of the hairs will be abnormal. In females who carry this trait, only half of the hairs may be abnormal.
Genetic testing may show a change (mutation) in the ATP7A gene.
Treatment Return to top
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.
Outlook (Prognosis) Return to top
Most persons with this condition die within the first few years of life.
Possible Complications Return to top
When to Contact a Medical Professional Return to top
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.
Prevention Return to top
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.Update Date: 4/15/2009 Updated by: Chad Haldeman-Englert, MD, Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA. Review provided by VeriMed Healthcare Network. Also reviewed by David Zieve, MD, MHA, Medical Director, A.D.A.M., Inc.