RESUMO

A female neonate was seen because of shock, ketosis, and undetectable blood glucose. Initial urinary findings indicated the possibility of a defect of fatty acid beta-oxidation; subsequent studies showed that she had medium-chain acyl-coenzyme. A dehydrogenase deficiency. This case highlights the fact that the initial symptoms may occur in the first few days of life, and that the presence of ketosis does not exclude the possibility of a fatty acid oxidation defect; the profiles of urinary organic acids and acylglycines may not be characteristic at that time.

Assuntos

Ácidos Graxos Dessaturases/deficiência , Acil-CoA Desidrogenase , Glicemia/análise , Carnitina/sangue , Ácidos Graxos/urina , Feminino , Humanos , Recém-Nascido , Cetose/diagnóstico , Cetose/urina , Oxirredução , Fenobarbital/administração & dosagem , Fenobarbital/uso terapêutico