UNLABELLED: 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.
UNLABELLED: 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 MCADpatients.
Authors: Ravi J Tolwani; Doug A Hamm; Liqun Tian; J Daniel Sharer; Jerry Vockley; Piero Rinaldo; Dietrich Matern; Trenton R Schoeb; Philip A Wood Journal: PLoS Genet Date: 2005-08-19 Impact factor: 5.917
Authors: Willem Staels; James D'Haese; Els Sercu; Linda De Meirleir; Johan Colpaert; Luc Cornette Journal: Matern Health Neonatol Perinatol Date: 2015-03-18
Authors: Maria Luz Couce; Paula Sánchez-Pintos; Luisa Diogo; Elisa Leão-Teles; Esmeralda Martins; Helena Santos; Maria Amor Bueno; Carmen Delgado-Pecellín; Daisy E Castiñeiras; José A Cocho; Judit García-Villoria; Antonia Ribes; José M Fraga; Hugo Rocha Journal: Orphanet J Rare Dis Date: 2013-07-10 Impact factor: 4.123