Archives of Disease in Childhood | 2019
G260\u2005Liver transplantation in propionic acidaemia: a single centre experience in the UK
Abstract
Background Liver transplantation for patients with Propionic Acidaemia (PA) remains a therapeutic option. Method Retrospective review of patients with PA who underwent liver transplantation at a tertiary liver centre between 1995 and 2015. Results Fourteen children were identified, 8 of whom were male, with median age at presentation 3 days (0–77). Pre-transplant median protein restriction was 1\u2009g/kg/day (0.63–1.75). 86% had developmental delay; 71% required supportive feeding. Frequent metabolic decompensations were the main indication. Median age at transplantation was 2 years (0.8–8). Thirteen received cadaveric grafts (4 auxiliary) and 1 live-related donor. Two-year patient survival was 86% but overall study and graft survival was 79% and 69% respectively. Three died: at 43 days (biliary peritonitis), 225 days (acute on chronic rejection) and 13.5 years (post-transplant lymphoproliferative disease). Of 11 survivors, 5 had at least one episode of acute cellular rejection, 2 sustained metabolic stroke and 3 developed cardiomyopathy. Median follow-up duration was 4 years (2–22). All liberalised protein intake and 9 had no further metabolic decompensations (median episodes pre-transplant 4 (1–30) and post-transplant 0 (0–5)). All survivors made developmental progress, though delayed when compared with unaffected children. Plasma glycine and propionylcarnitine remained elevated but reduced post-transplant. Discussion Liver transplantation in PA significantly reduces frequency of metabolic decompensations, liberalises protein intake and should be considered in selected cases.