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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.
Children with attention …
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