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.
Liver transplantation for mitochondrial neurogastrointestinal encephalomyopathy / De Giorgio, Roberto; Pironi, Loris; Rinaldi, Rita; Boschetti, Elisa; Caporali, Leonardo; Capristo, Mariantonietta; Casali, Carlo; Cenacchi, Giovanna; Contin, Manuela; D'Angelo, Roberto; D'Errico, Antonietta; Gramegna, Laura Ludovica; Lodi, Raffaele; Maresca, Alessandra; Mohamed, Susan; Morelli, Maria Cristina; Papa, Valentina; Tonon, Caterina; Tugnoli, Vitaliano; Carelli, Valerio; D'Alessandro, Roberto; Pinna, Antonio Daniele. - In: ANNALS OF NEUROLOGY. - ISSN 0364-5134. - 80:3(2016), pp. 448-455. [10.1002/ana.24724]
Liver transplantation for mitochondrial neurogastrointestinal encephalomyopathy
CASALI, Carlo;
2016
Abstract
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.File | Dimensione | Formato | |
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