Menkes disease is caused by a defective gene named ATPTA1 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 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 is estimated to occur anywhere from 1 individual per 100,000 live births to 1 in 250,000 live births.
Logically, it would seem that if copper could get to the cells and organs that need it, the disorder would be lessened. Researchers have tried giving intramuscular injections of copper, with mixed results. It does seem that the earlier in the course of the disease that the injections are given, the more positive the results. Milder forms of the disease respond well, but the severe form does not show much change. This form of therapy, as well as others, is still be investigated. Treatment is also focused on relieving the symptoms. In addition to medical specialists, physical and occupational therapy can help maximize potential. A nutritionist will recommend a high-calorie diet, often with supplements added to baby formula. Genetic screening of the individual's family will identify carriers and provide counseling and guidance on recurrence risks (1 in 4 for each pregnancy).