Menkes syndrome is characterized by thin and coarse hair, growth failure, and deterioration of the nervous system. Extra signs and symptoms comprise weak muscle tone, sagging facial features, seizures, mental retardation, and developmental delay.

Menkes syndrome is an inborn error of metabolism in which cells in the body cannot absorb enough copper. Copper added at oddly low levels in the liver and brain, but at elevated than normal levels in the kidney and intestinal lining. 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. There is often extensive neurodegeneration in the gray matter of the brain. Menkes' disease is transmitted as an X-linked recessive trait.

A condition is considered X-linked if the transformed gene that causes the disorder is sited on the X chromosome, one of the two sex chromosomes. In males, one altered copy of the gene in each cell is enough to cause the condition. In females, a mutation must be present in both copies of the gene to cause the disorder. Males are affected by X-linked recessive disorders much more frequently than females. A number of other diseases, including type IX Ehlers-Danlos syndrome, may be the result of allelic mutations and it is hoped that research into these diseases may prove useful in fighting Menkes' disease. About 1 in 300,000 individuals are affected.

About one-third of cases results from new mutations in the gene and occurs in people with no history of the disorder in their family. In rare cases, symptoms begin later in childhood and are less severe. Symptoms appear during infancy and are largely a result of abnormal intestinal copper absorption with secondary deficiency in copper-dependent mitochonrial enzymes.

Normal or faintly slowed development may proceed for 2 to 3 months, and then there will be severe developmental delay and a loss of premature developmental skills. Menkes syndrome affected children may be born prematurely, but appear healthy at birth and develop normally for 6 to 8 weeks. Treatment usually only helps when started very early in the course of the disease. Treatment with daily copper injections may improve the outcome in Menkes disease if it begins within days after birth. Other treatment is symptomatic and supportive. See a genetic counselor if you want to have children and you have a family history of Menkes syndrome.

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