Menkes syndrome is an inborn error of metabolism that markedly decreases the cells' ability to absorb copper. The disorder causes severe cerebral degeneration and arterial changes, resulting in death in infancy. The disease can often be diagnosed by looking at a victim's hair, which appears to be both whitish and kinked when viewed under a microscope. Occipital horn syndrome (sometimes called X-linked cutis laxa), is a less severe form of Menkes syndrome that begins in early to middle childhood. It is characterized by wedge-shaped calcium deposits in a bone at the base of the skull (the occipital bone), coarse hair, and loose skin and joints.

Causes

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 as an X-linked recessive disorder. The disorder is related to deficient levels of copper in the cells. copper deficiency as a result of impaired absorption, a genetic disease. In addition to abnormally fragile hair, connective tissue is abnormal, and death from rupture of the aorta occurs in early life. The disorder is related to deficient levels of copper in the cells. Symptoms include progressive mental deterioration, kinked, twisted and brittle hair, and skeletal changes. Death usually occurs in the first few years of life. About 1 in 300,000 individuals are affected.

Symptoms

Signs and symptoms of this disorder include weak muscle tone (hypotonia), sagging facial features, seizures, mental retardation, and developmental delay. The patients have brittle hair and metaphyseal widening. In rare cases, symptoms begin later in childhood and are less severe. It is a X-linked recessive disorder, and is therefore considerably more common in males: females require two defective alleles to develop the disease. Causes 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.

Signs include slow growth in the womb, abnormally low body temperature, bleeding in the brain and abnormal appearance of the hair under the microscope. Males will have all of their hairs show abnormal structure but females who are carriers of this trait may show only half the hairs to be abnormal. Insufficient copper levels can affect the structure of bone, skin, hair, and blood vessels and interfere with nerve function.

Treatment

The most common treatment for Menkes is copper injection therapy, but the studies of the treatment show mixed results. In general, the earlier the copper therapy is received, the better the results. Also, people with ATP7A mutations that don’t completely stop the copper transport in the body respond better to treatment than those with mutations causing absolutely no activity. In addition to copper therapy, physical and occupational therapy can help maximize developmental potential, and nutritionists can recommend the best diet.

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