Infantile cholestatic jaundice associated with adult-onset type II citrullinemia

• Published in: The Journal of pediatrics Vol. 138; no. 5; pp. 735 - 740
• Main Authors: Tazawa, Yusaku, Kobayashi, Keiko, Ohura, Toshihiro, Abukawa, Daiki, Nishinomiya, Fujihiko, Hosoda, Yoshito, Yamashita, Mariko, Nagata, Ikuo, Kono, Yumi, Yasuda, Tomotsugu, Yamaguchi, Naoki, Saheki, Takeyori
• Format: Journal Article
• Language: English
• Published: New York, NY Mosby, Inc 01.05.2001; Elsevier
• Subjects: Aminoacid disorders; Biological and medical sciences; Biopsy; Cholestasis - complications; Citrullinemia - complications; Citrullinemia - pathology; Errors of metabolism; Female; Humans; Infant, Newborn; Jaundice, Neonatal - complications; Liver - pathology; Medical sciences; Metabolic diseases; Molecular Sequence Data; CTLN2; ASS; Human; Disease development; Jaundice; Carbon-nitrogen ligases; Enzyme; Metabolic diseases; Argininosuccinate synthase; Infant; Urea cycle; Biliary tract disease; Enzymopathy; Genetic determinism; Genetic disease; Case study; Gene; Ligases; Cholostasis; Citrullinemia; Digestive diseases; Adult; Mutation; Aminoacid disorder

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 ty...