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.
2016
DE GIORGIO, Roberto; Pironi, Loris; Rinaldi, Rita; Boschetti, Elisa; Caporali, Leonardo; Capristo, Mariantonietta; Casali, Carlo; Cenacchi, Giovanna; ...espandi
File in questo prodotto:
File Dimensione Formato  
Giorgio_et_al-2016-Annals_of_Neurology.pdf

solo gestori archivio

Descrizione: versione editoriale
Tipologia: Full text (versione editoriale)
Licenza: NON PUBBLICO - Accesso privato/ristretto
Dimensione 478.89 kB
Formato Adobe PDF
478.89 kB Adobe PDF   Visualizza/Apri   Richiedi una copia
DEGIORGIO 11392_2374935_postprint.pdf

accesso aperto

Descrizione: post print
Tipologia: Post-print
Licenza: PUBBLICO - Pubblico con Copyright
Dimensione 1.5 MB
Formato Adobe PDF
1.5 MB Adobe PDF Visualizza/Apri

I documenti in SFERA sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.

Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11392/2374935
Citazioni
  • ???jsp.display-item.citation.pmc??? 40
  • Scopus 80
  • ???jsp.display-item.citation.isi??? 63
social impact