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Medium-chain acyl-Coenzyme A dehydrogenase deficiency (MCADD): a cause of severe hypoglycaemia in an apparently well child
  1. Kene Ebuka Maduemem
  1. Department of Paediatrics, Cork University Hospital Group, Cork, Ireland
  1. Correspondence to Dr Kene Ebuka Maduemem, ebukakene{at}


Medium-chain acyl-Coenzyme A dehydrogenase deficiency (MCADD) is a disorder of fatty acid β oxidation inherited in an autosomal recessive manner. The enzyme is useful in hepatic ketogenesis, a major source of energy once hepatic glycogen stores become depleted during prolonged fasting. It is a cause of hypoketotic hypoglycaemia in a previously well child. MCADD is not part of newborn screening in Ireland; children are likely to be missed if routine hypoglycaemic screen is not instituted when blood glucose level is below 2.6 mmol/L. This is a case of an otherwise healthy 23-month-old baby girl who presented with severe hypoglycaemia with some initial diagnostic dilemma.

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  • Competing interests None declared.

  • Patient consent Obtained.

  • Provenance and peer review Not commissioned; externally peer reviewed.