What is Menkes's syndrome?

Menkes syndrome, also called Menkes' disease or eccentric hair disease, is a genetic disorder causing a lack of copper. It is a recessive disorder associated with sex on X chromosome, which means that men have more likely to develop them than women, while women are more likely to be asymptomatic carriers. Women can only inherit a disorder if both parents bear a defective gene, while only one copy of a defective gene is born for a man. Menkes syndrome is relatively rare and affects about one of every 300,000 people.

Menkes syndrome is caused by mutation in the ATP7A gene, which is responsible for the production of a protein that regulates the distribution of copper in the body. As a result of mutation, some organs, especially the small intestine and kidneys, have an unusually high level of copper, while others have a dangerously low level of copper. The body requires copper to create a number of enzymes necessary for healthy metabolism.

Symptoms of Menkes Syndrome are usually present fromchildhood. They may include premature birth, unusually low weight or body temperature, thin and wire hair, stunted growth, weak muscles and bones, mental retardation or developmental deterioration, neurodegeneration, damaged arteries in the brain, face sagging or hairy faces and seizures. This disease can also cause metaphysis, part of the long bones in which growth plates are placed to spread. Children with Menkes syndrome are often irritated and difficult to feed. The most famous symptom of the disorder that gives it the colloquial name eccentric hair disease is silvery or colorless, fragile and coarse hair.

in a milder form of Menkes syndrome, called the rear -corner syndrome, calcium deposits at the base of the skull, relaxed skin and joints, and coarse hair begins to appear in childhood. The deposits on the Thlebka grow through the occipital bones and are called the occipital corners. The occipital corner syndrome can also cause elbow deformities, collar, hips and pelvis and head dislocation radiallyru or elbow.

There is no medicine for menkes syndrome, so treatment is aimed at solving symptoms as needed. The main form of treatment is copper replacement, as most of the symptoms are directly caused by a lack of copper. It is best to start this treatment as soon as possible. Copper accessories are injected either intravenously, into a vein or subcutaneously under the skin. Children with Menkes syndrome usually live for only a few years.