Cirrhosis in an infant heterozygous for classical citrullinaemia

Ezgu F., Tumer L., Dalgic B., Hasanoglu A., Kobayashi K., Saheki T.

ACTA PAEDIATRICA, vol.94, no.12, pp.1849-1851, 2005 (Journal Indexed in SCI) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 94 Issue: 12
  • Publication Date: 2005
  • Doi Number: 10.1080/0803525051003078
  • Title of Journal : ACTA PAEDIATRICA
  • Page Numbers: pp.1849-1851


Classical citrullinaemia is caused by the inherited deficiency of argininosuccinate synthetase. Although varying degrees of liver involvement have been observed in urea cycle defects, including classical citrullinaemia, the co-existence of liver failure in a patient heterozygous for the disease has not been reported before. A female infant was investigated to find out the aetiology of early infantile liver failure. She was later found to be a heterozygote for the G390R mutation found in severe citrullinaemia patients.