Test developed for deadly genetic defect

Screening could identify newborns at risk for rare Menkes disease

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updated 11:42 a.m. ET Feb. 8, 2008

BOSTON - Doctors say they have developed a screening test for deadly Menkes disease so patients with the genetic defect can receive life-saving copper injections.

A team led by Dr. Stephen Kaler of the National Institute of Child Health and Human Development in Bethesda, Maryland, said the test identified 46 out of 81 infants at risk for the rare condition, which causes seizures, stunted growth, mental retardation and kinky hair.

Twelve of the 46 began receiving copper-replacement therapy within three weeks of birth, the researchers reported in the New England Journal of Medicine. They said 92 percent were alive after nearly five years.

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Historically, fewer than 13 percent are alive after two years if treatment has been delayed.

Menkes disease is often missed because normal newborns also can have low copper blood levels.

In addition, affected infants appear healthy at birth and they do not begin to develop symptoms for six to eight weeks. By then it can be too late for daily copper injections to be effective.

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