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Menkes’ “kinky hair” disease is an X-linked recessive neurodegenerative disorder caused by mutations in the copper transport gene, ATP7A. It is usually fatal by the age of 3 years. The biochemical markers of the disease (low serum copper and caeruloplasmin) are unreliable in the newborn and newborn screening is not available. Decreased activity of the enzyme dopamine-β-hydroxylase in Menkes’ disease causes a disturbance of neurochemicals, and researchers in Bethesda, Maryland (New England Journal of Medicine 2008;358:605–14) have measured plasma concentrations of dopamine, noradrenaline, dihydroxyphenylacetic acid and dihydroxyphenylglycol to make a neonatal diagnosis. They tested 81 high-risk neonates and found abnormal neurochemical profiles (high dopamine and dihydroxyphenylacetic acid and low noradrenaline and dihydroxyphenylglycol, with high dopamine: noradrenaline and dihydroxyphenylacetic acid: dihydroxyphenylglycol ratios) in 46. The sensitivity and specificity for Menkes’ disease were high on follow up. Copper replacement therapy was started within 22 days of birth for 12 infants. Over a mean follow up of 4.6 years survival in this group was 92%. In an historical control group followed for an average of 1.8 years survival was 13%. Two patients were neurodevelopmentally normal at follow up and had normal brain myelination; they both had some ATP7A function. It may be possible to make an early diagnosis and provide effective treatment for some infants at high genetic risk of Menkes’ disease.

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