TY - JOUR
T1 - Liver transplantation for mitochondrial neurogastrointestinal encephalomyopathy
AU - De Giorgio, Roberto
AU - Pironi, Loris
AU - Rinaldi, Rita
AU - Boschetti, Elisa
AU - Caporali, Leonardo
AU - Capristo, Mariantonietta
AU - Casali, Carlo
AU - Cenacchi, Giovanna
AU - Contin, Manuela
AU - D'Angelo, Roberto
AU - D'Errico, Antonietta
AU - Gramegna, Laura Ludovica
AU - Lodi, Raffaele
AU - Maresca, Alessandra
AU - Mohamed, Susan
AU - Morelli, Maria Cristina
AU - Papa, Valentina
AU - Tonon, Caterina
AU - Tugnoli, Vitaliano
AU - Carelli, Valerio
AU - D'Alessandro, Roberto
AU - Pinna, Antonio Daniele
PY - 2016/9/1
Y1 - 2016/9/1
N2 - 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.
AB - 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.
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U2 - 10.1002/ana.24724
DO - 10.1002/ana.24724
M3 - Article
C2 - 27421916
AN - SCOPUS:84985993282
VL - 80
SP - 448
EP - 455
JO - Annals of Neurology
JF - Annals of Neurology
SN - 0364-5134
IS - 3
ER -