UCL metabolic disorder study leads to national newborn screening

A pilot study led by Professor Carol Dezateux (UCL Institute for Child Health) has informed a decision to introduce a blood test for a rare metabolic condition for all newborn babies across England. Medium Chain Acyl CoA Dehydrogenase Deficiency (MCADD) is a rare inherited disorder which affects the body's ability to break down fat for energy. The first sign of the disorder is usually when the sufferer is taken seriously ill. The condition can be fatal unless the patient is given glucose. Six pilot screening centres in England tested 1.5 million babies over four years - more than half the babies born during that period. Just under 200 tested positive (around 0.01%) and of those about 150 were confirmed as having MCADD through further tests. Professor Dezateux said: "Our pilot study showed that we can correctly identify children who are likely to have MCADD without worrying the families of the vast majority of children who are tested and don't have the condition.