title: Infantile cholestatic jaundice associated with adult-onset type II citrullinemia.
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.
authors.affiliation: Department of Pediatrics, Faculty of Medicine, Tottori University, Yonago, Japan.
authors.forename: Y
authors.initials: Y
authors.lastname: Tazawa
authors.forename: K
authors.initials: K
authors.lastname: Kobayashi
authors.forename: T
authors.initials: T
authors.lastname: Ohura
authors.forename: D
authors.initials: D
authors.lastname: Abukawa
authors.forename: F
authors.initials: F
authors.lastname: Nishinomiya
authors.forename: Y
authors.initials: Y
authors.lastname: Hosoda
authors.forename: M
authors.initials: M
authors.lastname: Yamashita
authors.forename: I
authors.initials: I
authors.lastname: Nagata
authors.forename: Y
authors.initials: Y
authors.lastname: Kono
authors.forename: T
authors.initials: T
authors.lastname: Yasuda
authors.forename: N
authors.initials: N
authors.lastname: Yamaguchi
authors.forename: T
authors.initials: T
authors.lastname: Saheki
mesh_terms: D001706:Biopsy; D002779:Cholestasis / Q000150:complications*; D020159:Citrullinemia / Q000150:complications* / Q000473:pathology; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D007567:Jaundice, Neonatal / Q000150:complications*; D008099:Liver / Q000473:pathology; D008969:Molecular Sequence Data