Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): Position paper on diagnosis, prognosis, and treatment by the MNGIE International Network.

doi:10.1002/jimd.12300

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Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): Position paper on diagnosis, prognosis, and treatment by the MNGIE International Network.

Journal of inherited metabolic disease - 1 Mar 2021

Hirano Michio, Carelli Valerio, De Giorgio Roberto, Pironi Loris, Accarino Anna, Cenacchi Giovanna, D'Alessandro Roberto, Filosto Massimiliano, Martí Ramon, Nonino Francesco, Pinna Antonio Daniele, Baldin Elisa, Bax Bridget Elizabeth, Bolletta Alessio, Bolletta Riccardo, Boschetti Elisa, Cescon Matteo, D'Angelo Roberto, Dotti Maria Teresa, Giordano Carla, Gramegna Laura Ludovica, Levene Michelle, Lodi Raffaele, Mandel Hanna, Morelli Maria Cristina, Musumeci Olimpia, Pugliese Alessia, Scarpelli Mauro, Siniscalchi Antonio, Spinazzola Antonella, Tal Galit, Torres-Torronteras Javier, Vignatelli Luca, Zaidman Irina, Zoller Heinz, Rinaldi Rita, Zeviani Massimo

Abstract excerpt

Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is a rare autosomal recessive disease caused by TYMP mutations and thymidine phosphorylase (TP) deficiency. Thymidine and deoxyuridine accumulate impairing the mitochondrial DNA maintenance and integrity. Clinically, patients show severe and progressive gastrointestinal and neurological manifestations. The onset typically occurs in the second decade of...

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PMID: 32898308
DOI: 10.1002/jimd.12300
PMCID: PMC8399867

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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