Infantile cholestatic jaundice associated with adult-onset type II citrullinemia

J Pediatr. 2001 May;138(5):735-40. doi: 10.1067/mpd.2001.113264.

Abstract

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.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Biopsy
  • Cholestasis / complications*
  • Citrullinemia / complications*
  • Citrullinemia / pathology
  • Female
  • Humans
  • Infant, Newborn
  • Jaundice, Neonatal / complications*
  • Liver / pathology
  • Molecular Sequence Data