ABSTRACT
Adult-onset type II citrullinemia (CTLN2) is a disorder caused by an inborn error of metabolism affecting the liver. CTLN2 is an autosomal recessive disorder characterized by recurrent encephalopathy with hyperammonemia due to highly elevated plasma levels of citrulline and ammonia, caused by a deficiency of argininosuccinate synthetase in the liver. A small number of patients have undergone liver transplantation with favorable results. In Korea, the limitations of the deceased donor pool have made living donor liver transplantation a common alternative treatment option. We report the case of a patient with type II citrullinemia who was treated successfully with auxiliary partial orthotopic liver transplantation (APOLT) from a living donor. This is the first description of an APOLT for a patient with adult onset type II citrullinemia in Korea.
Subject(s)
Adult , Humans , Ammonia , Argininosuccinate Synthase , Citrulline , Citrullinemia , Hyperammonemia , Korea , Liver , Liver Transplantation , Living Donors , Plasma , Tissue DonorsABSTRACT
We have performed 3 cases of APOLT in one child and two adults. The child recipient had suffered from complement factor H deficiency since 3 months after birth and at the age of 30 months, APOLT was undertaken. Living donors of two adult recipients were affected by severe hepatic steatosis and the grafts were relatively small-for-size. After left hemihepatectomies, left lateral section and left hemilivers were transplanted orthotopically. The child recipient died of heart failure due to sepsis 7 months after transplantation, but factor H level remained nearly normal until his death. Although one adult suffered from hepatic venous stricture postoperatively, all adult recipients are alive with normal liver function for 11 and 8 months. In conclusion, although APOLT is technically demanding, APOLT may be a suitable surgical procedure in non-cirrhotic metabolic liver disease and a feasible solution for marked steatotic living donor grafts and small-for-size grafts.