title: Cirrhosis in an infant heterozygous for classical citrullinaemia.
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.
  
  
  CONCLUSIONS
  Classical citrullinaemia is a phenotypically heterogeneous disease, and observations for signs of its presence should be made even in heterozygotes.
authors.affiliation: Department of Paediatric Metabolism and Nutrition, Gazi University Faculty of Medicine, Ankara, Turkey. fatihezgu@isbank.net.tr
authors.forename: Fatih Süheyl
authors.initials: FS
authors.lastname: Ezgü
authors.forename: Leyla
authors.initials: L
authors.lastname: Tümer
authors.forename: Buket
authors.initials: B
authors.lastname: Dalgiç
authors.forename: Alev
authors.initials: A
authors.lastname: Hasanoĝlu
authors.forename: Keiko
authors.initials: K
authors.lastname: Kobayashi
authors.forename: Takeyori
authors.initials: T
authors.lastname: Saheki
mesh_terms: D001124:Argininosuccinate Synthase / Q000235:genetics*; D020159:Citrullinemia / Q000150:complications* / Q000235:genetics*; D003241:Consanguinity; D005260:Female; D006579:Heterozygote; D006801:Humans; D007231:Infant, Newborn; D008103:Liver Cirrhosis / Q000209:etiology*; D009154:Mutation
chemical_list: D001124:Argininosuccinate Synthase