title: Adult presentation of MCAD deficiency revealed by coma and severe arrythmias.
abstract: 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 micro mol/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.
authors.affiliation: Service de Réanimation Médicale Pédiatrique, Hôpital d'Enfants, CHU Brabois, Allée du Morvan, Vandoeuvre les Nancy, 54500 Nancy, France. f.feillet@chu-nancy.fr
authors.forename: F
authors.initials: F
authors.lastname: Feillet
authors.forename: G
authors.initials: G
authors.lastname: Steinmann
authors.forename: C
authors.initials: C
authors.lastname: Vianey-Saban
authors.forename: C
authors.initials: C
authors.lastname: de Chillou
authors.forename: N
authors.initials: N
authors.lastname: Sadoul
authors.forename: E
authors.initials: E
authors.lastname: Lefebvre
authors.forename: M
authors.initials: M
authors.lastname: Vidailhet
authors.forename: P E
authors.initials: PE
authors.lastname: Bollaert
mesh_terms: D042964:Acyl-CoA Dehydrogenase / Q000172:deficiency*; D000328:Adult; D001145:Arrhythmias, Cardiac / Q000209:etiology*; D002331:Carnitine / Q000031:analogs & derivatives* / Q000097:blood; D003128:Coma / Q000209:etiology*; D003422:Critical Care / Q000379:methods; D003998:Dicarboxylic Acids / Q000652:urine; D006801:Humans; D008297:Male; D008661:Metabolism, Inborn Errors / Q000097:blood / Q000150:complications* / Q000175:diagnosis* / Q000628:therapy / Q000652:urine; D016896:Treatment Outcome
chemical_list: D003998:Dicarboxylic Acids; C116917:acylcarnitine; D042964:Acyl-CoA Dehydrogenase; D002331:Carnitine