Introduction: Liver transplantation (LT) is increasingly used for the treatment of metabolic liver diseases in pediatric populations. As  these conditions stem from  genetically inherited errors of the metabolism, the use of living donor (LD) transplantation – particularly from family members – remains a topic of ongoing debate regarding its safety, efficacy, and long-term outcomes compared to deceased donor LT.
Methods: We conducted a retrospective review of all consecutive patients with metabolic liver diseases who underwent LT at IRCCS ISMETT (Palermo, Italy) between January 2010 and December 2024. Patients with genetically based cholestatic diseases were excluded. Data were collected on clinical indications, donor type, waiting time, intraoperative parameters, and post-transplant outcomes. Patients were divided into two groups: Group 1 (DD-LT, n=12) and Group 2 (LD-LT, n=9).
Results: The primary indications for LT were urea cycle disorders (n=7), organic acidemias (n=4), Wilson’s disease (n=3), hyperoxaluria (n=3), glycogen storage disease (n=1), hypercholesterolemia (n=1), Crigler-Najjar syndrome (n=1), and α1-antitrypsin deficiency (n=1). Most patients (n=19, 90%) were listed as status 2B on the national transplant waiting list, while two were assigned standard status 3. The waiting times for these two were 218 and 65 days, respectively.
The median waiting time was significantly shorter in Group 2 (9 ± 16 days) compared to Group 1 (101 ± 100 days), p = 0.013). Cold ischemia time and operative duration were both significantly lower in Group 2 (p=0.04). Additionally, Group 2 recipients had significantly lower body weight (15.4 ± 8.3 kg vs. 27.7 ± 15.7 kg; P = 0.047). No cases of primary graft dysfunction or vascular thrombosis were observed. One patient in Group 1 with advanced Wilson’s disease and secondary cardiopathy died post-transplant; all other patients (95%) are currently alive with a median follow-up of 8.4 years. No recurrence of metabolic disease was noted.
Conclusions: LD-LT is a safe and effective option for pediatric patients with metabolic diseases, offering significant advantages in wait time, surgical metrics, and early outcomes. Successful implementation requires a multidisciplinary team and structured donor evaluation.