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Screening for medium chain acyl-CoA dehydrogenase deficiency has still not been evaluated

BMJ 2001; 322 doi: (Published 13 January 2001) Cite this as: BMJ 2001;322:112
  1. Stuart Tanner (, professor of child health,
  2. Mark Sharrard, consultant paediatrician with a special interest in metabolic disease,
  3. Maureen Cleary, consultant paediatrician with special interest in metabolic disease,
  4. John Walter, consultant paediatrician with special interest in metabolic disease,
  5. Ed Wraith, consultant paediatrician with special interest in metabolic disease,
  6. Philip Lee, consultant paediatrician/metabolic medicine,
  7. James Leonard, professor of paediatric metabolic disease,
  8. Andrew Morris, senior lecturer in paediatric metabolic medicine,
  9. Neil McIntosh, professor of child life and health
  1. University of Sheffield
  2. Sheffield Children's Hospital, Sheffield S10 2TH
  3. Willink Biochemical Genetics Unit, Royal Manchester Children's Hospital, Manchester M27 4HA
  4. Charles Dent Metabolic Unit, National Hospital for Neurology, Queen Square, London WC1N 3BG
  5. Biochemistry, Endocrinology and Metabolism, Institute of Child Health, London WC1N 1EH
  6. Sir James Spence Department of Child Health, Royal Victoria Infirmary, Newcastle upon Tyne NE1 4LP
  7. University of Edinburgh, Edinburgh EH9 1UW

    EDITOR—Every baby born in the United Kingdom is screened for phenylketonuria and congenital hypothyroidism at 6-14 days of age. Several screening laboratories now use tandem mass spectrometry for estimating blood phenylalanine concentration. Tandem mass spectrometry can assay simultaneously, in the same sample, many other metabolites and can thus potentially detect other metabolic disorders, including medium chain acyl-CoA dehydrogenase deficiency.

    Medium chain acyl-CoA dehydrogenase deficiency is almost as common as phenylketonuria, affecting roughly 1:15 000 births in the United Kingdom. Infants with …

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