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Pulmonary haemorrhage and cardiac dysfunction in a neonate with medium‐chain acyl‐CoA dehydrogenase (MCAD) deficiency
Author(s) -
Maclean K.,
Rasiah V. S.,
Kirk E. P. E.,
Carpenter K.,
Cooper S.,
Lui K.,
Oei J.
Publication year - 2005
Publication title -
acta pædiatrica
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.772
H-Index - 115
eISSN - 1651-2227
pISSN - 0803-5253
DOI - 10.1111/j.1651-2227.2005.tb01797.x
Subject(s) - lethargy , medicine , carnitine , beta oxidation , cardiomyopathy , cardiology , pediatrics , metabolism , heart failure
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. Conclusion: 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.