Sudden Acute Liver Failure in Citrullinemia Type 1: An Argument for Earlier Liver Transplantation?

Acute liver failure has been described at initial presentation of citrullinemia type 1, but recurrent hepatic decompensations during medical treatment have not been reported. We describe 5 children developing episodes of acute liver failure, including one who required emergency liver transplantation. Our findings expand the citrullinemia type 1 phenotype and support early liver transplant referral in selected cases.