title: Pulmonary haemorrhage and cardiac dysfunction in a neonate with medium-chain acyl-CoA dehydrogenase (MCAD) deficiency.
abstract: We report on a favourable case of MCAD deficiency (homozygous 985A > G) that presented as lethargy, poor feeding, pulmonary haemorrhage and cardiac arrest without hypoglycaemia. The cessation of intralipid and the commencement of carnitine supplementation were associated with a rapid clinical improvement.
  
  
  CONCLUSIONS
  Mild carnitine depletion and secondary impairment of long-chain fatty acid metabolism may have contributed to post-asphyxial myocardial dysfunction and ventricular arrhythmias. Metabolic disorders must be kept in mind as a differential diagnosis in acutely ill infants, but it must also be emphasized that carnitine therapy is not uniformly effective in all MCAD patients.
authors.affiliation: Department of Medical Genetics, Sydney Children's Hospital, Sydney, Australia.
authors.forename: K
authors.initials: K
authors.lastname: Maclean
authors.forename: V S
authors.initials: VS
authors.lastname: Rasiah
authors.forename: E P E
authors.initials: EP
authors.lastname: Kirk
authors.forename: K
authors.initials: K
authors.lastname: Carpenter
authors.forename: S
authors.initials: S
authors.lastname: Cooper
authors.forename: K
authors.initials: K
authors.lastname: Lui
authors.forename: J
authors.initials: J
authors.lastname: Oei
mesh_terms: D042964:Acyl-CoA Dehydrogenase / Q000172:deficiency*; D006323:Heart Arrest / Q000209:etiology*; D006470:Hemorrhage / Q000209:etiology*; D006801:Humans; D007231:Infant, Newborn; D008171:Lung Diseases / Q000209:etiology*; D008297:Male
chemical_list: D042964:Acyl-CoA Dehydrogenase