Menkes disease is an inherited disorder in which the body has a problem absorbing copper. The disease affects development, both mental and physical.
Menkes disease is caused by a defect in the ATP7A gene. The defect makes it hard for the body to properly distribute (transport) copper throughout the body. As a result, the brain and other parts of the body do not get enough copper, while it builds up in the small intestine and kidneys. A low copper level can affect the structure of bone, skin, hair, and blood vessels, and interfere with nerve function.
Menkes syndrome is usually inherited, which means it runs in families. The gene is on the X-chromosome, so if a mother carries the defective gene, each of her sons has a 50% (1 in 2) chance of developing the disease, and 50% of her daughters will be a carrier of the disease. This kind of gene inheritance is called X-linked recessive.
In some people, the disease is not inherited. Instead, the gene defect is present at the time the baby is conceived.
Common symptoms of Menkes disease in infants are:
Once Menkes disease is suspected, tests that may be done include:
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 and depends on whether the ATP7A gene still has some activity.
These resources can provide more information on Menkes syndrome:
Most children with this disease die within the first few years of life.
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 (relatives on the mother's side of the family) of a boy with this syndrome should be seen by a geneticist to find out if they are carriers.
Reviewed By: Anna C. Edens Hurst, MD, MS, FACMG, Assistant Professor in Medical Genetics, The University of Alabama at Birmingham, Birmingham, AL. Review provided by VeriMed Healthcare Network. Also reviewed by David Zieve, MD, MHA, Medical Director, Brenda Conaway, Editorial Director, and the A.D.A.M. Editorial team.