Pulmonary haemorrhage and cardiac dysfunction in a neonate with medium-chain acyl-CoA dehydrogenase (MCAD) deficiency.
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.
Maclean
K
K
Department of Medical Genetics, Sydney Children's Hospital, Sydney, Australia.
Rasiah
V S
VS
Kirk
E P E
EP
Carpenter
K
K
Cooper
S
S
Lui
K
K
Oei
J
J
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
D042964:Acyl-CoA Dehydrogenase