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Article

Distinctive gastrointestinal motor dysfunction in patients with MNGIE.

Neurogastroenterology and motility - 1 Oct 2023

Alcalá-González Luis G, Accarino Anna, Martí Ramon, Sánchez-Tejerina Daniel, Llauradó Arnau, Azpiroz Fernando, Malagelada Carolina

Abstract excerpt

BACKGROUND: Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is a rare mitochondrial disease caused by mutations in TYMP, encoding thymidine phosphorylase. Clinically it is characterized by severe gastrointestinal dysmotility associated with cachexia and a demyelinating sensorimotor polyneuropathy. Even though digestive manifestations are progressive and invariably lead to death, the features of...

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Identifiers

PMID: 37448106
DOI: 10.1111/nmo.14643

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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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