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Menke's disease

Menkes disease is caused by a faulty gene called ATPTA 1 that regulates copper metabolism in the body. The disease mainly affects male infants. Copper accumulates at abnormally low levels in the liver and brain, but at higher than normal levels in the kidneys and intestinal wall. Affected babies can be born prematurely but look healthy at birth and develop normally for 6 to 8 weeks. Then the symptoms begin, including slack muscle tension, seizures and stunted growth. Menkes disease is also characterized by a subnormal body temperature and strikingly peculiar hair, which is frizzy, colorless or steel-colored and breaks easily. There is often extensive neurodegeneration in the gray brain mass. Arteries in the brain can be twisted with frayed and split inner walls. This can lead to tearing or blocking of the arteries. Weakened bones (osteoporosis) can lead to fractures.

Therapy

Treatment with daily injections of copper can improve the outcome of Menkes disease if it starts within days of birth. Other treatments are symptomatic and supportive.

Prognosis

Since neonatal screening for this condition is not available and early detection is rare because the clinical signs of Menkes disease are subtle at first, the disease is rarely treated early enough to make a significant difference. The prognosis for babies with Menkes disease is poor. Most children with Menkes disease die within the first decade of life.

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