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Article

Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): case report with a new mutation.

European journal of pediatrics - 1 Nov 2010

Bariş Zeren, Eminoğlu Tuba, Dalgiç Buket, Tümer Leyla, Hasanoğlu Alev

Abstract excerpt

INTRODUCTION: Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is a rare autosomal recessive multisystem disorder characterized by severe gastrointestinal dysmotility and leads to cachexia, ptosis, external ophthalmoplegia, peripheral neuropathy, and leukoencephalopathy. RESULTS AND DISCUSSION: It is often misdiagnosed as anorexia nervosa or intestinal pseudoobstuctions and are unnecessarily treated...

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Source

Identifiers

PMID: 20585803
DOI: 10.1007/s00431-010-1237-0

Genes

TYMP

Variants

Provenance

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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Characterization of a Novel Pathogenic Mutation Causing Mitochondrial Neurogastrointestinal EncephalopathySemantic proximity Read ↗

A Novel Mutation in an MNGIE Patient Presenting with More Prominent Neurological Symptoms than GI Symptoms.Semantic proximity Read ↗

Novel Mutations of the TYMP Gene in Mitochondrial Neurogastrointestinal Encephalomyopathy: Case Series and Literature Review.Semantic proximity Read ↗

Thymidine phosphorylase deficiency causes MNGIE: an autosomal recessive mitochondrial disorder.Semantic proximity Read ↗

Compound heterozygous mutations of TYMP as underlying causes of mitochondrial neurogastrointestinal encephalomyopathy (MNGIE).Semantic proximity Read ↗

Mitochondrial neurogastrointestinal encephalopathy in an Indian family with possible manifesting carriers of heterozygous TYMP mutation.Semantic proximity Read ↗

Mitochondrial neurogastrointestinal encephalomyopathy: an autosomal recessive disorder due to thymidine phosphorylase mutations.Semantic proximity Read ↗

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