RESUMO

Neonatal screening programs for very-long-chain acyl-CoA dehydrogenase deficiency (VLCADD) have recently been implemented. We report 2 newborns with elevated C14:1-carnitine levels on day 3 of life and normal levels on days 5 to 7. Enzyme and molecular analyses confirmed VLCADD in the first patient and heterozygosity in the second patient. We conclude that the diagnosis of VLCADD can be missed by acylcarnitine analysis during anabolic conditions. An increased C14:1-carnitine level can also occur in heterozygous individuals. Elevated C14:1-carnitine level on neonatal screening warrants further diagnostic workup even if a repeat sample demonstrates normal acylcarnitine levels.

Assuntos

Acil-CoA Desidrogenase de Cadeia Longa/deficiência , Erros Inatos do Metabolismo/diagnóstico , Triagem Neonatal/métodos , Espectrometria de Massas por Ionização por Electrospray , Acil-CoA Desidrogenase de Cadeia Longa/genética , Carnitina/análogos & derivados , Carnitina/análise , Pré-Escolar , Feminino , Triagem de Portadores Genéticos , Humanos , Recém-Nascido , Erros Inatos do Metabolismo/genética , Mutação de Sentido Incorreto