Pulmonary haemorrhage and cardiac dysfunction in a neonate with medium-chain acyl-CoA dehydrogenase (MCAD) deficiency |
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Authors: | Maclean K Rasiah V S Kirk E P E Carpenter K Cooper S Lui K Oei J |
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Institution: | Department of Medical Genetics, Sydney Children's Hospital, Sydney, Australia. |
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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. 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. |
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Keywords: | Cardiac arrest carnitine MCAD pulmonary haemorrhage |
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