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.

Liver transplantation for mitochondrial neurogastrointestinal encephalomyopathy

DE GIORGIO, Roberto
Primo
;
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.
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
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Utilizza questo identificativo per citare o creare un link a questo documento: http://hdl.handle.net/11392/2374935
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