Menkes syndrome is an inborn error of metabolism in which cells in the body cannot absorb enough copper.

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.

• Bone spurs
• Brittle, kinky hair
• Feeding difficulties
• Irritability
• Lack of muscle tone, floppiness (hypotonia)
• Low body temperature
• Mental deterioration
• Pudgy, rosy cheeks
• Seizures
• Skeletal changes

There is often a history of Menkes syndrome in a male relative.

Signs include:

• 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.

Tests include:

• 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.

• Seizures
• Death

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.