Cirrhosis in an infant heterozygous for classical citrullinaemia.
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.
Ezgü
Fatih Süheyl
FS
Department of Paediatric Metabolism and Nutrition, Gazi University Faculty of Medicine, Ankara, Turkey. fatihezgu@isbank.net.tr
Tümer
Leyla
L
Dalgiç
Buket
B
Hasanoĝlu
Alev
A
Kobayashi
Keiko
K
Saheki
Takeyori
T
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
D001124:Argininosuccinate Synthase