Menkes syndrome (MNK, Menkes disease, copper transport disease, steely hair disease, kinky hair disease, Menkes kinky hair syndrome), is a disorder that affects copper levels in the body, leading to copper deficiency. It is an x-linked recessive disorder, and is therefore considerably more common in males: females require two defective alleles to develop the disease.
The disorder was originally described by John Hans Menkes (1928–2008) et al. in 1962.
Some of the most common symptoms of Menkes syndrome are:
- rosy cheeks
- kinky hair
- Feeding difficulties
- Low body temperature
- Bone spurs
Menkes syndrome is inherited as an X-linked recessive disorder.
Mutations in the ATP7A gene cause Menkes syndrome. The ATP7A gene provides instructions for making a protein that is important for regulating copper levels in the body. Copper is necessary for many cellular functions, but it is toxic when present in excessive amounts. Mutations in the ATP7A gene result in poor distribution of copper to the body's cells. Copper accumulates in some tissues, such as the small intestine and kidneys, while the brain and other tissues have unusually low levels of copper. The decreased supply of copper can reduce the activity of numerous copper-containing enzymes that are necessary for the structure and function of bone, skin, hair, blood vessels, and the nervous system. The signs and symptoms of Menkes syndrome and occipital horn syndrome are caused by the reduced activity of these copper-containing enzymes.
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.
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
Most persons with this condition die within the first few years of life.
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.