Living Donor Liver Transplantation in a Paediatric Patient With Citrullinaemia Type 2

Citrullinaemia is a urea cycle defect that results from a deficiency of the enzyme arginosuccinate synthetase. Type 1 disease is diagnosed in childhood, whereas type 2 disease is adult onset. But, we report the outcome in a boy (13 years) with citrullinaemia type 2 who received a live donor liver transplant (LDLT) at our centre. One advantage of LDLT over deceased donor liver transplantation is the opportunity to schedule surgery, which beneficially affects neurological consequences. In conclusion, transplantation should be considered to be the definitive treatment for citrullinaemia type 2 at this stage, although some issues remain unresolved.