Liver Transplantation in Inborn Errors of Metabolism: A Retrospective Study of a National Experience

AIM: Over the past four decades, liver transplantation has been performed worldwide for metabolic diseases, mainly to ameliorate the metabolic defect. However, little has been described regarding the indications and outcomes of the procedure. METHODS: Data were collected retrospectively from medical records of 28 paediatric patients with metabolic diseases who underwent liver transplantation in Israel since 2008, considering both metabolic and liver transplant outcomes. RESULTS: The underlying diagnoses for liver transplantation included urea cycle defects, organic acidemias, aminoacidopathies, glycogen storage disease, congenital disorder of glycosylation and a mitochondrial disorder. The mean age at transplantation was 49.5 ± 49.8 months. The mean follow-up time was 53.1 ± 46.8 months. Metabolic crises per year decreased, from a mean 3.8 ± 3.9 pre-transplant to none post-transplant (p < 0.001), and hospitalization frequency decreased from 7.1 ± 5.4 to 1.6 ± 1.7 (p < 0.001). Both surgical and late-term complications were mostly similar to those of nonmetabolic paediatric liver transplantations. Only three patients exhibited new neurological issues after transplant, two of which were likely attributed to the neurotoxic effects of immunosuppression. CONCLUSIONS: Liver transplantation is a promising alternative for the treatment of certain metabolic diseases, offering potential benefits in metabolic crises and hospitalization frequency, dietary restrictions, medication regimens and neurodevelopmental status.