Liver transplantation for mitochondrial neurogastrointestinal encephalomyopathy

Research paper by Roberto De Giorgio MD, PhD, Loris Pironi MD, Rita Rinaldi MD, Elisa Boschetti PhD, Leonardo Caporali PhD, Mariantonietta Capristo PhD, Carlo Casali MD, PhD, Giovanna Cenacchi MD, Manuela Contin ScD, Roberto D'Angelo MD, Antonietta D'Errico MD, Laura Ludovica Gramegna MD, Raffaele Lodi MD, Alessandra Maresca PhD, Susan Mohamed ScD, et al.

Indexed on: 05 Aug '16Published on: 04 Aug '16Published in: Annals of Neurology


Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is a fatal, recessive disease caused by mutations in the gene encoding thymidine phosphorylase, leading to reduced enzymatic activity, toxic nucleoside accumulation, and secondary mitochondrial DNA damage. Thymidine phosphorylase replacement has been achieved by allogeneic hematopoietic stem cell transplantation, a procedure hampered by high mortality. Based on high thymidine phosphorylase expression in the liver, a 25-year-old severely affected patient underwent liver transplantation. Serum levels of toxic nucleosides rapidly normalized. At 400 days of follow-up, the patient's clinical conditions are stable. We propose liver transplantation as a new therapy for MNGIE. Ann Neurol 2016