RESUMO

We describe a case of liver-specific short-chain hydroxyacyl-coenzyme A dehydrogenase deficiency. Enzymatic confirmation of heterozygosity was shown in family members, illustrating the recessive nature of this new disorder. Heterozygous carriers did not present with biochemical abnormalities when challenged by fasting.

Assuntos

3-Hidroxiacil-CoA Desidrogenases/deficiência , Erros Inatos do Metabolismo/diagnóstico , Morte Súbita do Lactente/diagnóstico , 3-Hidroxiacil-CoA Desidrogenases/genética , Pré-Escolar , Feminino , Heterozigoto , Humanos , Lactente , Recém-Nascido , Fígado/enzimologia , Fígado/patologia , Masculino , Erros Inatos do Metabolismo/genética