Liver transplantation (LT) is a well-established treatment for pediatric patients with metabolic liver diseases (MLDs) unresponsive to medical management. MLDs account for approximately 15% of pediatric LT indications. The most common MLDs leading to LT include urea cycle disorders (UCD), organic acidemias (MSUD, MMA, PA,), and glycogen storage diseases (GSD). In these conditions, LT not only restores normal liver function but also corrects or palliate the underlying metabolic defect by providing a source of the deficient enzyme.

Material and methods: The following variables were extracted from medical records of patients receiving a LT for a MLD between 1/2003 and 1/2024: type of MLD, wait-time for LT, age at LT, type of LT, length of post-op total hospital and PICU stay, and patient/graft survival.  Patients lost to follow-up and those re-transplanted were excluded. The study was conducted under the IRB #2017-0365. Analysis was done using SPSSÒ v.29.0.02.

Results: 109/353 (31%) pediatric LT performed at our institution were for MLDs including: UCD: 30, MSUD: 21, PFICs’: 14, PA: 11, MMA: 8, a1-AT: 4, GSD: 5, others:16. The mean age at LT 4.27 ± 5.09 years, mean time on the waiting list: 126.4 ± 168.4 days; the analysis of the most frequent MLDs’ results are shown in table 1. Sixty-three (58%) received whole organs, 21 (19%) Splits, 18 Living donors (16%) and 7 reduce grafts. Three patients died (2.7%), and other 4 grafts were lost. The overall Patient survival was: 99% 1st year, 98% at 3rd and 5th years, while Graft survival was: 95% 1st year, 95% 3rd year and 94% 5th year. Patient and Graft survival analysis by primary disease and graft types were not different among the prevalent diseases.

In conclusion, LT offers a life-saving intervention for pediatric patients with MLDs, providing excellent short- and long-term outcomes. Graft type does not impact on survival. A multidisciplinary approach is crucial to address the complex needs of these patients and to ensure optimal results.