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Inherited Disorders of Vitamins and Cofactors pp 135–136Cite as

The Diagnosis and Biochemical Investigation of a Patient with a Short Chain Fatty Acid Oxidation Defect

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Abstract

Though the clinical and biochemical features of medium chain acyl-CoA dehydrogenase deficiency are now becoming well established we have much less experience of defects in short chain acyl-CoA dehydrogenation. The patient described here demonstrated defective oxidation of butyrate and hexanoate by cultured fibroblasts but normal oxidation of both medium and long chain fatty acid substrates, indicating a specific short chain abnormality. In keeping with this the urine contained excessive ethylmalonic acid.

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References

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Author information

Authors and Affiliations

  1. Department of Chemical Pathology, Sheffield Children’s Hospital, Sheffield, S10 2TH, UK

    M. J. Bennett

  2. Sub-Department of Medical Genetics, University of Sheffield, Sheffield, S10 5DN, UK

    R. G. F. Gray

  3. Departments of Biochemistry and Paediatrics, Alder Hey Children’s Hospital, Liverpool, L12 2AP, UK

    D. M. Isherwood & N. Murphy

  4. Neonatal Screening Laboratory and University Department of Psychiatry, Middlewood Hospital, Sheffield, S6 1TP, UK

    R. J. Pollitt

Authors
  1. M. J. Bennett
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  2. R. G. F. Gray
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  3. D. M. Isherwood
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  4. N. Murphy
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  5. R. J. Pollitt
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Editor information

G. M. Addison K. Bartlett R. A. Harkness R. J. Pollitt

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© 1985 SSIEM and MTP Press Limited

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Bennett, M.J., Gray, R.G.F., Isherwood, D.M., Murphy, N., Pollitt, R.J. (1985). The Diagnosis and Biochemical Investigation of a Patient with a Short Chain Fatty Acid Oxidation Defect. In: Addison, G.M., Bartlett, K., Harkness, R.A., Pollitt, R.J. (eds) Inherited Disorders of Vitamins and Cofactors. Springer, Dordrecht. https://doi.org/10.1007/978-94-011-8019-1_40

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  • DOI: https://doi.org/10.1007/978-94-011-8019-1_40

  • Publisher Name: Springer, Dordrecht

  • Print ISBN: 978-94-011-8021-4

  • Online ISBN: 978-94-011-8019-1

  • eBook Packages: Springer Book Archive

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