RESUMO

Adult-onset type II citrullinemia, characterized by a liver-specific argininosuccinate synthetase deficiency, is caused by a deficiency of citrin that is encoded by the SLC25A13 gene. Three patients with infantile cholestatic jaundice were found to have mutations of the SLC25A13 gene. Adult-onset type II citrullinemia may be associated with infantile cholestatic disease.

Assuntos

Colestase/complicações , Citrulinemia/complicações , Icterícia Neonatal/complicações , Biópsia , Citrulinemia/patologia , Feminino , Humanos , Recém-Nascido , Fígado/patologia , Dados de Sequência Molecular