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Production and disposal of medium-chain fatty acids in children with medium-chain acyl-CoA dehydrogenase deficiency

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Journal of Inherited Metabolic Disease

Summary

The effect of fasting on plasma concentrations of fatty acids has been determined in four children with medium-chain acyl-CoA dehydrogenase (MCAD) deficiency. In addition, thein vivo rate of octanoate oxidation was measured, using [1-13C]octanoate. In the three older children (1.5–11.2 years), fasting for up to 18 h stimulated lipolysis, as reflected by the increasing concentration of free fatty acids, but with little rise in concentrations of medium-chain fatty acids, octanoate, decanoate andcis-4-decenoate. In an infant (0.5 year), lipolysis was greater and was accompanied by rising concentrations of medium-chain fatty acids. After 13.5 h there was a rapid increase in the concentration of decanoate andcis-4-decenoate. The calculatedin vivo rate of octanoate oxidation was substantial in all patients studied (6.4–13.1 µmol/kg per h) despite very low MCAD activityin vitro. It is concluded that under basal conditions thein vivo oxidation rate of medium-chain fatty acids is near normal in the four children studied with MCAD deficiency.

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Author notes

  1. S. J. R. Heales

    Present address: Department of Neurochemistry, Institute of Neurology, Queen Square, WC1N 3BG, London, UK

  2. G. N. Thompson

    Present address: Metabolic Unit, The Children's Hospital, Temple Street, Dublin 1, Eire

Authors and Affiliations

  1. Institute of Child Health, 30 Guilford Street, WC1N 1EH, London, UK

    S. J. R. Heales, G. N. Thompson, A. F. Massoud, S. Rahman & J. V. Leonard

  2. Nutrition Research Group, Medical Research Council, Clinical Research Centre, Watford Road, HA1 3UJ, Harrow, Middlesex, UK

    G. N. Thompson & D. Halliday

Authors
  1. S. J. R. Heales
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  2. G. N. Thompson
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  3. A. F. Massoud
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  4. S. Rahman
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  5. D. Halliday
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  6. J. V. Leonard
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Heales, S.J.R., Thompson, G.N., Massoud, A.F. et al. Production and disposal of medium-chain fatty acids in children with medium-chain acyl-CoA dehydrogenase deficiency. J Inherit Metab Dis 17, 74–80 (1994). https://doi.org/10.1007/BF00735398

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  • DOI: https://doi.org/10.1007/BF00735398

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