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Liver transplantation for mitochondrial neurogastrointestinal encephalomyopathy
Author(s) -
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,
To Caterina,
Tugnoli Vitaliano,
Carelli Valerio,
D'Alessandro Roberto,
Pinna Antonio Daniele
Publication year - 2016
Publication title -
annals of neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 4.764
H-Index - 296
eISSN - 1531-8249
pISSN - 0364-5134
DOI - 10.1002/ana.24724
Subject(s) - thymidine phosphorylase , mitochondrial encephalomyopathies , transplantation , thymidine , mitochondrial dna , biology , liver transplantation , hematopoietic stem cell transplantation , purine nucleoside phosphorylase , medicine , gene , biochemistry , dna , enzyme , mitochondrial myopathy , purine
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