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Menkes’ disease (also called the kinky hair disease or Menkes kinky hair syndrome[1]:765 ) is a disorder that affects copper levels in the body,[2] leading to copper deficiency.[3]
It was originally described by Menkes et al. in 1962.[4]
It is a X-linked recessive disorder, and is therefore considerably more common in males: females require two defective alleles to develop the disease.
It is characterized by sparse and coarse hair, growth failure, and deterioration of the nervous system. Onset of 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.
Occipital horn syndrome (sometimes called X-linked cutis laxa), is a mild form of Menkes syndrome that begins in early to middle childhood. It is characterized by calcium deposits in a bone at the base of the skull (occipital bone), coarse hair, and loose skin and joints.
One European study reported a rate of 1 in 254,000.[5] A Japanese study reported a rate of 2.8 per million.[6]
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 mitochondrial 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.[7] 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.
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