Early cirrhosis in a patient with type I citrullinaemia (CTLN1)

Gucer S., Asan E., Atilla P., Tokatli A., Caglar M.

Journal of Inherited Metabolic Disease, vol.27, no.4, pp.541-542, 2004 (Peer-Reviewed Journal) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 27 Issue: 4
  • Publication Date: 2004
  • Doi Number: 10.1023/b:boli.0000037401.63596.de
  • Journal Name: Journal of Inherited Metabolic Disease
  • Journal Indexes: Science Citation Index Expanded, Scopus
  • Page Numbers: pp.541-542


A 17-month-old girl with type I classical citrullinaemia (CTLN1) presenting with early cirrhosis and unusual ultrastructural features of the liver is reported. The patient is homozygous for a splicing mutation in intron 15 of the argininosuccinate synthase gene. © SSIEM and Kluwer Academic Publishers.