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Liver transplantation for mitochondrial neurogastrointestinal encephalomyopathy

2016; Wiley; Volume: 80; Issue: 3 Linguagem: Inglês

10.1002/ana.24724

1531-8249

Roberto De Giorgio, Loris Pironi, Rita Rinaldi, Elisa Boschetti, Leonardo Caporali, Mariantonietta Capristo, Carlo Casali, Giovanna Cenacchi, Manuela Contin, Roberto D’Angelo, Antonietta D’Errico, Laura Ludovica Gramegna, Raffaele Lodi, Alessandra Maresca, Susan Mohamed, Maria Cristina Morelli, Valentina Papa, Caterina Tonon, Vitaliano Tugnoli, Valério Carelli, Roberto D’Alessandro, Antonio Daniele Pinna,

Glycogen Storage Diseases and Myoclonus

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;80:448-455.