Menkes disease is caused by a defective gene that regulates the metabolism of copper in the body. The disease primarily affects male infants. Copper accumulates at abnormally low levels in the liver and brain, but at higher than normal levels in the kidney and intestinal lining. Affected infants may be born prematurely, but appear healthy at birth and develop normally for 6 to 8 weeks. Then 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.

Menkes disease, also known as kinky hair disease, is an X-linked neurodegenerative disease of impaired copper transport. Menkes et al first described it in 1962. Danks et al first noted that copper metabolism is abnormal in 1972; in 1973, after noting the similarity of kinky hair to the brittle wool of Australian sheep raised in areas with copper-deficient soil, he demonstrated abnormal levels of copper and ceruloplasmin in these patients. A girl with the Menkes disease phenotype and an X:autosome chromosomal translocation was described in 1987, which led to the identification of the locus on the X chromosome in 1993. Milder variants of Menkes disease, including occipital horn syndrome (also known as X-linked cutis laxa or Ehlers-Danlos type 9) have also been described.

Affected infants may be born prematurely. Symptoms appear during infancy and are largely a result of abnormal intestinal copper absorption with secondary deficiency in copper-dependent mitochonrial enzymes. 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. Arteries in the brain can 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.

Menkes disease occurs in people of all ethnic backgrounds. The gene involved is on the X (female) chromosome, so males are usually the ones affected by the disorder. Females who carry the gene defect generally do not have symptoms unless certain other unusual genetic circumstances are present. Menkes disease is estimated to occur anywhere from 1 individual per 100,000 live births to 1 in 250,000 live births. Babies born with classic Menkes disease appear normal at birth, including their hair. When the baby is 2-3 months old, things start to change, and the parents begin to suspect something is wrong. In the milder forms, symptoms may not appear until the child is older. Females who carry the defective gene may have twisted hair, but not always.

Brain abnormalities such as a blood clot at the base of the brain (subdural hematoma) and/or rupture or thrombosis of arteries in the brain may occur. Weakened bones (osteoporosis) may result in fractures. Menkes disease primarily affects males. Affected infants may be born prematurely. In some cases, early symptoms may resolve, and normal or slightly slowed development may proceed for 2 to 3 months. At approximately three months of age, severe, developmental delay, loss of early development skills, and convulsions may occur.

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