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Article

Transient clinical improvement of a mitochondrial neurogastrointestinal encephalomyopathy-like syndrome after allogeneic haematopoietic stem cell transplantation.

BMJ case reports - 1 Aug 2017

Baker Malcolm Kevin, Schutte Clara Maria, Ranchhod Neelay, Brittain David, van Rensburg J E

Abstract excerpt

Mitochondrial neurogastrointestinal encephalopathy (MNGIE), usually an autosomal-recessive inherited condition, causes gastrointestinal dysmotility, ophthalmoplegia, ptosis, leukoencephalopathy and neuropathy. The chromosome 22 disorder, due to mutations in the nuclear gene TYMP encoding thymidine phosphorylase (TP), leads to the accumulation of thymidine and deoxyuridine, with mitochondrial dysfunction.This...

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Share to Hematopoietic Stem Cell Transplantation
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Mitochondrial Encephalomyopathies

Share to Muscular Dystrophy, Oculopharyngeal

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Source

Open in PubMed Open full text

Identifiers

PMID: 28765176
DOI: 10.1136/bcr-2016-218276
PMCID: PMC5612346

Genes

TYMP

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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