Cirrhosis in an infant heterozygous for classical citrullinaemia

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

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

  • Publication Type: Article / Article
  • Volume: 94 Issue: 12
  • Publication Date: 2005
  • Doi Number: 10.1080/0803525051003078
  • Journal Name: ACTA PAEDIATRICA
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Page Numbers: pp.1849-1851
  • Keywords: infantile, urea cycle disorder, cirrhosis, LIVER-TRANSPLANTATION, CITRIN DEFICIENCY, IDENTIFICATION, HETEROGENEITY, MUTATIONS, PHENOTYPE, CHILDREN, GENE
  • Gazi University Affiliated: Yes

Abstract

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.