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Newborn screening for Medium Chain Acyl CoA dehydrogenase deficiency
  1. James V Leonard (j.leonard{at}ich.ucl.ac.uk)
  1. Institute of Child Health, United Kingdom
    1. Carol Dezateux (c.dezateux{at}ich.ucl.ac.uk)
    1. Institute of Child Health, United Kingdom

      Abstract

      Medium chain acyl CoA dehydrogenase deficiency (MCADD) is an uncommon inborn error of fatty acid oxidation that is a preventable cause of morbidity and mortality. Newborn screening for MCADD has been introduced in many centres worldwide and in this review we outline what the clinician needs to know. In most screening programmes a positive screening test has a high predictive value but the diagnosis should always be confirmed independently. The basic treatment is dietary; avoiding fasting and ensuring a high carbohydrate intake during any illness. Careful attention to detail is essential as the long term outcome is only as good as the frontline clinical management.

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