ReviewFrontiers in cellular neuroscience2017
Mitochondrial Neurogastrointestinal Encephalomyopathy Caused by Thymidine Phosphorylase Enzyme Deficiency: From Pathogenesis to Emerging Therapeutic Options.
Review in Frontiers in cellular neuroscience, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 29 papers.
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Who cites it
29 citing papers in PubMed, 52 citations in OpenAlex.
- Overview of neuroimaging in primary mitochondrial disorders.Pediatric radiology · 2025Review
- Brain magnetic resonance imaging findings in Mitochondrial Neurogastrointestinal Encephalomyopathy (MNGIE): A case-based review.Radiology case reports · 2025Article
- Mitochondrial diseases: from molecular mechanisms to therapeutic advances.Signal transduction and targeted therapy · 2025Review
- 1,3,4-Oxadiazole: An Emerging Scaffold to Inhibit the Thymidine Phosphorylase as an Anticancer Agent.Current medicinal chemistry · 2024Review
- Gut dysmotility in children with neurological impairment: the nutritional management.Frontiers in neurology · 2023Review
- Mitochondrial neurogastrointestinal encephalomyopathy in a Pakistani female: a case report.Journal of medical case reports · 2022Article
- Bioinformatic Analysis of the Perilymph Proteome to Generate a Human Protein Atlas.Frontiers in cell and developmental biology · 2022Article
- Synergistic Deoxynucleoside and Gene Therapies for Thymidine Kinase 2 Deficiency.Annals of neurology · 2021Article
- Stem cell-derived mitochondria transplantation: A promising therapy for mitochondrial encephalomyopathy.CNS neuroscience & therapeutics · 2021Review
- A novel nonsense mutation in the TYMP gene causing MNGIE with multiple intracranial hemorrhages on brain MRI.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2021Article
- Comment on "Mitochondrial Neurogastrointestinal Encephalomyopathy: Novel Pathogenic Mutation in Thymidine Phosphorylase Gene in a Patient from Cape Verde Islands".Case reports in neurological medicine · 2021Article
- Pregnancy in MNGIE: a clinical and metabolic honeymoon.Annals of clinical and translational neurology · 2020Article
- 5-Fluorouracil in combination with deoxyribonucleosides and deoxyribose as possible therapeutic options for the Coronavirus, COVID-19 infection.Medical hypotheses · 2020Article
- Expression and Retention of Thymidine Phosphorylase in Cultured Reticulocytes as a Novel Treatment for MNGIE.Molecular therapy. Methods & clinical development · 2020Article
- Clinical and molecular characterization of a patient with mitochondrial Neurogastrointestinal Encephalomyopathy.BMC gastroenterology · 2020Article
- Successful liver transplantation in mitochondrial neurogastrointestinal encephalomyopathy (MNGIE).Molecular genetics and metabolism · 2020Article
- Mitochondrial neurogastrointestinal encephalomyopathy: approaches to diagnosis and treatment.Journal of translational genetics and genomics · 2020Article
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- Gastrointestinal Dysmotility in MNGIE: from thymidine phosphorylase enzyme deficiency to altered interstitial cells of Cajal.Orphanet journal of rare diseases · 2019Review
Corrections and comments
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Authors and funding
5 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is a progressive metabolic disorder caused by thymidine phosphorylase (TP) enzyme deficiency. The lack of TP results in systemic accumulation of deoxyribonucleosides thymidine (dThd) and deoxyuridine (dUrd). In these patients, clinical features include mental regression, ophthalmoplegia, and fatal gastrointestinal complications. The accumulation of nucleosides also causes imbalances in mitochondrial DNA (mtDNA) deoxyribonucleoside triphosphates (dNTPs), which may play a direct or indirect role in the mtDNA depletion/deletion abnormalities, although the exact underlying mechanism remains unknown. The available therapeutic approaches include dialysis and enzyme replacement therapy, both can only transiently reverse the biochemical imbalance. Allogeneic hematopoietic stem cell transplantation is shown to be able to restore normal enzyme activity and improve clinical manifestations in MNGIE patients. However, transplant related complications and disease progression result in a high mortality rate. New therapeutic approaches, such as adeno-associated viral vector and hematopoietic stem cell gene therapy have been tested in
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