Pulmonary haemorrhage and cardiac dysfunction in a neonate with medium-chain acyl-CoA dehydrogenase (MCAD) deficiency
- 1 January 2005
- journal article
- Published by Wiley in Acta Paediatrica
- Vol. 94 (1) , 114-116
- https://doi.org/10.1080/08035250410018300
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.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.Keywords
This publication has 9 references indexed in Scilit:
- Screening Newborns for Inborn Errors of Metabolism by Tandem Mass SpectrometryNew England Journal of Medicine, 2003
- Mutation analysis in mitochondrial fatty acid oxidation defects: Exemplified by acyl-CoA dehydrogenase deficiencies, with special focus on genotype-phenotype relationshipHuman Mutation, 2001
- Outcome of medium chain acyl-CoA dehydrogenase deficiency after diagnosisArchives of Disease in Childhood, 1999
- Prospective surveillance study of medium chain acyl-CoA dehydrogenase deficiency in the UKArchives of Disease in Childhood, 1998
- Acute pulmonary toxicity in an infant from intravenous amiodaroneThe American Journal of Cardiology, 1997
- Medium–chain acyl-coenzyme A dehydrogenase deficiency: Clinical course in 120 affected childrenThe Journal of Pediatrics, 1994
- Neonatal symptoms in medium chain acyl coenzyme A dehydrogenase deficiency.Archives of Disease in Childhood, 1993
- Inherited metabolic diseases in the sudden infant death syndrome.Archives of Disease in Childhood, 1991
- Medium-Chain Acyl-CoA Dehydrogenase Deficiency in Children with Non-Ketotic Hypoglycemia and Low Carnitine LevelsPediatric Research, 1983