title: Liver transplantation for mitochondrial neurogastrointestinal encephalomyopathy.
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.
authors.affiliation: Department of Surgical and Medical Sciences, University of Bologna, Bologna, Italy. roberto.degiorgio@unibo.it.
authors.forename: Roberto
authors.initials: R
authors.lastname: De Giorgio
authors.affiliation: Department of Surgical and Medical Sciences, University of Bologna, Bologna, Italy.
authors.forename: Loris
authors.initials: L
authors.lastname: Pironi
authors.affiliation: Neurology Unit, St. Orsola-Malpighi Hospital, Bologna, Italy.
authors.forename: Rita
authors.initials: R
authors.lastname: Rinaldi
authors.affiliation: Department of Surgical and Medical Sciences, University of Bologna, Bologna, Italy.
authors.forename: Elisa
authors.initials: E
authors.lastname: Boschetti
authors.affiliation: IRCCS Institute of Neurological Sciences of Bologna, Bologna, Italy.
authors.forename: Leonardo
authors.initials: L
authors.lastname: Caporali
authors.affiliation: IRCCS Institute of Neurological Sciences of Bologna, Bologna, Italy.
authors.forename: Mariantonietta
authors.initials: M
authors.lastname: Capristo
authors.affiliation: Department of Medico-Surgical Sciences and Biotechnologies, University 'La Sapienza', Rome, Italy.
authors.forename: Carlo
authors.initials: C
authors.lastname: Casali
authors.affiliation: Department of Biomedical and Neuromotor Sciences, University of Bologna, Bologna, Italy.
authors.forename: Giovanna
authors.initials: G
authors.lastname: Cenacchi
authors.affiliation: IRCCS Institute of Neurological Sciences of Bologna, Bologna, Italy.|Department of Biomedical and Neuromotor Sciences, University of Bologna, Bologna, Italy.
authors.forename: Manuela
authors.initials: M
authors.lastname: Contin
authors.affiliation: Department of Surgical and Medical Sciences, University of Bologna, Bologna, Italy.|Neurology Unit, St. Orsola-Malpighi Hospital, Bologna, Italy.
authors.forename: Roberto
authors.initials: R
authors.lastname: D'Angelo
authors.affiliation: Department of Specialized, Diagnostics and Experimental Medicine, Bologna, Italy.
authors.forename: Antonietta
authors.initials: A
authors.lastname: D'Errico
authors.affiliation: Department of Biomedical and Neuromotor Sciences, University of Bologna, Bologna, Italy.
authors.forename: Laura Ludovica
authors.initials: LL
authors.lastname: Gramegna
authors.affiliation: Department of Biomedical and Neuromotor Sciences, University of Bologna, Bologna, Italy.
authors.forename: Raffaele
authors.initials: R
authors.lastname: Lodi
authors.affiliation: IRCCS Institute of Neurological Sciences of Bologna, Bologna, Italy.
authors.forename: Alessandra
authors.initials: A
authors.lastname: Maresca
authors.affiliation: IRCCS Institute of Neurological Sciences of Bologna, Bologna, Italy.
authors.forename: Susan
authors.initials: S
authors.lastname: Mohamed
authors.affiliation: Department of Surgical and Medical Sciences, University of Bologna, Bologna, Italy.
authors.forename: Maria Cristina
authors.initials: MC
authors.lastname: Morelli
authors.affiliation: Department of Biomedical and Neuromotor Sciences, University of Bologna, Bologna, Italy.
authors.forename: Valentina
authors.initials: V
authors.lastname: Papa
authors.affiliation: Department of Biomedical and Neuromotor Sciences, University of Bologna, Bologna, Italy.
authors.forename: Caterina
authors.initials: C
authors.lastname: Tonon
authors.affiliation: Department of Biomedical and Neuromotor Sciences, University of Bologna, Bologna, Italy.
authors.forename: Vitaliano
authors.initials: V
authors.lastname: Tugnoli
authors.affiliation: IRCCS Institute of Neurological Sciences of Bologna, Bologna, Italy.|Department of Biomedical and Neuromotor Sciences, University of Bologna, Bologna, Italy.
authors.forename: Valerio
authors.initials: V
authors.lastname: Carelli
authors.affiliation: IRCCS Institute of Neurological Sciences of Bologna, Bologna, Italy.
authors.forename: Roberto
authors.initials: R
authors.lastname: D'Alessandro
authors.affiliation: Department of Surgical and Medical Sciences, University of Bologna, Bologna, Italy.
authors.forename: Antonio Daniele
authors.initials: AD
authors.lastname: Pinna
mesh_terms: D000328:Adult; D006801:Humans; D007418:Intestinal Pseudo-Obstruction / Q000601:surgery*; D016031:Liver Transplantation / Q000379:methods*; D008297:Male; D017237:Mitochondrial Encephalomyopathies / Q000601:surgery*; D039141:Muscular Dystrophy, Oculopharyngeal; D009886:Ophthalmoplegia / Q000151:congenital; D028361:Mitochondrial Diseases