Menkes syndrome
Information, Symptoms, Treatments and Resources
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 body to proper distribute and absorb copper. As a result, the brain and other parts of the body do not get enough copper. Insufficient copper levels can affect the structure of bone, skin, hair, and blood vessels and interfere with nerve function. In the meantime, copper builds up in the small intestine and kidneys.
Menkes syndrome is inherited, which means it runs in families. It is inherited in an x-linked recessive condition.
- Pudgy, rosy cheeks
- Lack of muscle tone, floppiness (hypotonia)
- Irritability
- Seizures
- Brittle, kinky hair
- Feeding difficulties
- Low body temperature
- Bone spurs
- Skeletal changes
- Mental deterioration
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
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.
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.
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