Menkes syndrome is a rare genetic disorder causing copper deficiency, affecting one in 300,000 people. It is caused by a mutation in the ATP7A gene, causing abnormal copper levels in organs. Symptoms include thinning hair, stunted growth, weak muscles, mental retardation, and seizures. Copper replacement is the main form of treatment, but there is no cure.
Menkes syndrome, also called Menkes disease or frizzy hair disease, is a genetic disorder that causes a copper deficiency. It is a sex-linked recessive disorder on the X chromosome, meaning men are more likely to develop it than women, while women are more likely to be asymptomatic carriers. Females can only inherit the disease if both parents carry the defective gene, while only one copy of the defective gene is needed for a male to be born with the disease. Menkes syndrome is quite rare, affecting about one in 300,000 people.
Menkes syndrome is caused by a mutation in the ATP7A gene, responsible for the production of a protein that regulates the distribution of copper in the body. As a result of the mutation, some organs, particularly the small intestine and kidney, have abnormally high copper levels, while others have dangerously low copper levels. The body requires copper to produce a number of enzymes essential for a healthy metabolism.
Symptoms of Menkes syndrome are typically present from infancy. They may include premature birth, abnormally low weight or body temperature, thinning or wiry hair, stunted growth, weak muscles and bones, mental retardation or developmental impairment, neurodegeneration, damaged arteries in the brain, sagging facial features or plump cheeks, and seizures. The disease can also cause the metaphysis, the portion of long bones where the growth plates are located, to widen. Babies with Menkes syndrome are often irritable and difficult to feed. The best-known symptom of the disorder, which gives it the colloquial name frizzy hair disease, is silvery or colorless, brittle, coarse hair.
In a milder form of Menkes syndrome, called occipital horn syndrome, calcium deposits at the base of the skull, loose skin and joints, and coarse hair begin to appear in childhood. Deposits on the skull grow over the occipital bone and are called the occipital horns. Occipital horn syndrome can also cause deformities of the elbow, clavicles, hips, and pelvis, and dislocation of the radius head or elbow.
There is no cure for Menkes syndrome, so treatment focuses on addressing symptoms as needed. The main form of treatment is copper replacement, as most symptoms are directly caused by copper deficiency. It is best to start this treatment as early as possible. Copper supplements are injected intravenously, into a vein, or subcutaneously, under the skin. Children with Menkes syndrome usually live only a few years.
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