A successful liver transplantation in a patient with neonatal-onset carbamoyl phosphate synthetase-1 deficiency

Objectives Carbamoyl phosphate synthetase 1 (CPS-1) deficiency is a rare urea cycle disorder with an estimated prevalence of one in 150,000–200,000 live births. Patients often present with hyperammonemia shortly after protein feeding in the early days of life, and early-onset type is associated with high mortality rate. Case presentation We present here a case of a newborn male with a history of two deceased siblings whose ammonium level exceeded 200 μmol/L on the first day after birth, and who was started on dextrose infusion and ammonia-scavenging therapy after oral feeding was discontinued. Peritoneal dialysis was initiated after the patient’s ammonia level exceeded 500 μmol/L. At the age of five months, the patient underwent hemodialysis due to elevated ammonia levels accompanied by lethargy. The patient’s ammonia levels were successfully brought under control, and the patient underwent a liver transplantation at the age of six month, donated by the father. Conclusions We present this case to emphasize the efficacy of liver transplantation from a parent carrying a CPS-1 deficiency. The authors believe that, with further support from future studies, the use of carglumic acid can improve the prognosis in the chronic management of CPS-1 deficiency.