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Article

Mitochondrial Neurogastrointestinal Encephalomyopathy Syndrome Treated with Stem Cell Transplant: A Case Series and Literature Review.

Experimental and clinical transplantation : official journal of the Middle East Society for Organ Transplantation - 1 Dec 2018

Hanbali Amr, Rasheed Walid, Peedikayil Musthafa Chalikandy, Boholega Saeed, Alzahrani Hazza A

Abstract excerpt

Mitochondrial neurogastrointestinal encephalomyopathy syndrome is a rare autosomal recessive multisystem disorder caused by nuclear TYMP gene mutations, which leads to deficiency in thymidine phosphorylase enzyme. This deficiency then leads to mitochondrial dysfunction, which causes the features characteristic of this syndrome, including severe muscle wasting, gastrointestinal dysmotility, leukoencephalopathy,...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Intestinal Pseudo-Obstruction

Share to Muscular Dystrophy, Oculopharyngeal

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Source

Identifiers

PMID: 28411356
DOI: 10.6002/ect.2016.0109

Genes

TYMP

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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