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Menkes Syndrome – Causes, Symptoms and Treatment

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.

Menkes syndrome typically begins during infancy. 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.

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.

Menkes syndrome is inherited as an X-linked recessive disorder. 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 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.

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.

Normal or slightly slowed development may proceed for 2 to 3 months, and then there will be severe developmental delay and a loss of early developmental skills. Menkes Disease is also characterized by seizures, failure to thrive, subnormal body temperature, and strikingly peculiar hair, which is kinky, colorless or steel-colored, and easily broken. There can be extensive neurodegeneration in the gray matter of the brain.

Symptoms begin, including floppy muscle tone, seizures, and failure to thrive. Menkes disease is also characterized by subnormal body temperature and strikingly peculiar hair, which is kinky, colorless or steel-colored, and breaks easily. There is often extensive neurodegeneration in the gray matter of the brain. Arteries in the brain may also be twisted with frayed and split inner walls. This can lead to rupture or blockage of the arteries. Weakened bones (osteoporosis) may result in fractures.

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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Menkes Syndrome – Causes, Symptoms and Treatment / Author: peterhutch

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