Menkes Disease: Diagnosis/Prognosis And Treatment

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Diagnosis/prognosis and treatment

Infants who are born with menkes disease show no symptoms after birth. Menkes disease will probably go undiagnosed until symptoms begin to appear when the infant is two to three months old.

If there is history of menkes disease in the family early diagnosis which are based on relatively simple blood tests can be made. The test measures four different chemicals in the blood and, depending on their levels, the doctor/ health care provider can accurately diagnose the presence of Menkes disease before symptoms appear.

Normally to diagnose if a patient has menkes disease a blood test to measure the levels of copper and a copper-containing protein called ceruloplasmin in the blood is ordered. Low copper and ceruloplasmin values indicates menkes disease but during the first six weeks in healty infants these values are also low and similar with those in infants with Menkes disease

American researchers in an article published in the new England journal on February , 7 2008 entitled neonatal diagnosis and treatment of menkes disease show that it is po...
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