Intensive Care Medicine

, Volume 29, Issue 9, pp 1594–1597 | Cite as

Adult presentation of MCAD deficiency revealed by coma and severe arrythmias.

  • F. FeilletEmail author
  • G Steinmann
  • C. Vianey-Saban
  • C. de Chillou
  • N. Sadoul
  • E. Lefebvre
  • M. Vidailhet
  • P. E. Bollaert
Brief Report


We report the case of a 33-year-old man who presented with headaches and vomiting. Soon after admission he became drowsy and agitated, developed ventricular tachycardia and his neurological state worsened (Glasgow coma score 6). Blood analysis showed respiratory alkalosis, hyperlactacidemia (8 mmol/l), hyperammonemia (390 µmol/l) and hypoglycaemia (2.4 mmol/l). Subsequently, he developed supraventricular tachycardia, ventricular tachycardia and ultimately ventricular fibrillation resulting in cardiac arrest, which was successfully treated. A CT scan of the head revealed cerebral oedema. Whilst in the intensive care unit, he developed renal failure and rhabdomyolysis. The metabolic abnormalities seen at the time of admission normalised within 48 h with IV glucose infusion. Biological investigations, including urinary organic acids and plasma acylcarnitines, showed results compatible with MCAD deficiency. Mutation analysis revealed the patient was homozygous for the classical mutation A985G. This is one of only a few reports of severe cardiac arrhythmia in an adult due to MCAD deficiency. This condition is probably under-diagnosed in adult patients with acute neurological and/or cardiac presentations.


Arrhythmia Coma Hypoglycaemia Hyperammonemia, Medium-chain acyl-CoA dehydrogenase deficiency Adult 


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Copyright information

© Springer-Verlag 2003

Authors and Affiliations

  • F. Feillet
    • 1
    Email author
  • G Steinmann
    • 2
  • C. Vianey-Saban
    • 3
  • C. de Chillou
    • 4
  • N. Sadoul
    • 4
  • E. Lefebvre
    • 5
  • M. Vidailhet
    • 1
  • P. E. Bollaert
    • 2
  1. 1.Service de Réanimation Médicale PédiatriqueHôpital d'EnfantsNancy France
  2. 2.Service de Réanimation Médicale PolyvalenteHôpital CentralNancyFrance
  3. 3.Service de Biochimie PédiatriqueHôpital DebrousseFranceFrance
  4. 4.Département de CardiologieHôpital Brabois AdulteNancyFrance
  5. 5.Laboratoire de Biochimie PédiatriqueHôpital d'EnfantsNancyFrance

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