Liver transplantation for propionic acidemia: Survival and metabolic outcomes

Propionic acidemia (PA) is a severe metabolic disorder that leads to multiorgan damage despite comprehensive management. Liver transplantation (LT), particularly living donor liver transplantation, has been proposed as an effective treatment, but evidence from large-scale studies is limited.

This retrospective study analyzed clinical outcomes of 39 children with PA who underwent LT at Shanghai Ren Ji Hospital between September 2017 and October 2023. The data included demographics, surgical details, biochemical/metabolic markers, and progression of symptoms. Patients were grouped based on the Diagnosis-to-Transplant Interval (<20 vs. ≥20 mo) for comparative analysis.

Among 39 patients, 38 (97.4%) underwent living donor liver transplantation, and 1 received split LT. At 6 months after transplant, significant reductions were observed in propionylcarnitine/acetylcarnitine ratio (1.4 to 0.8, p=0.01), urinary methylcitrate (35.4 to 15.2, p=0.03), and 3-hydroxypropionic acid (198.8 to 6.8, p=0.02). Symptoms such as gross motor delay, metabolic acidosis, hyperammonemia, and feeding difficulties significantly improved (all p<0.001). The 5-year patient and graft survival rates were 97.4%. Short Diagnosis-to-Transplant Interval time (<20 mo) and long Diagnosis-to-Transplant Interval time (≥20 mo) also affected the results of specific PA clinical problems before and after transplantation.

This single-center study on PA transplantation suggests that LT, especially living donor liver transplantation, effectively reduces metabolic waste, promotes metabolic stability, and enhances quality of life in pediatric patients with PA. LT represents an effective therapeutic option for patients with metabolic instability.