Distinctive gastrointestinal motor dysfunction in patients with MNGIE [PDF]
Neurogastroenterology and Motility, 2023 Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is a rare mitochondrial disease caused by mutations in TYMP, encoding thymidine phosphorylase.
Luis G Alcalá-González +2 more
exaly +8 more sources
Successful liver transplantation in mitochondrial neurogastrointestinal encephalomyopathy (MNGIE)
Molecular Genetics and Metabolism, 2020 Summary Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is a fatal disorder characterized by progressive gastrointestinal dysmotility, peripheral neuropathy, leukoencephalopathy, skeletal myopathy, ophthalmoparesis, and ptosis.
Brian J Shayota +2 more
exaly +7 more sources
Expansion of the Phenotypic Spectrum of MNGIE: Lipodystrophy and Metabolic Alterations Associated with a p.Arg393_Val400dup TYMP Variant. [PDF]
Int J Mol SciMitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is a rare autosomal recessive disorder caused by mutations in the TYMP gene, typically characterized by severe and progressive gastrointestinal and neurological manifestations.
Gilio D +11 more
europepmc +4 more sources
Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): Position paper on diagnosis, prognosis, and treatment by the
Journal of Inherited Metabolic Disease, 2020 Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is a rare autosomal recessive disease caused by TYMP mutations and thymidine phosphorylase (TP) deficiency.
Michio Hirano +36 more
semanticscholar +10 more sources
Wernicke Encephalopathy Complicating a Distinctive POLG Phenotype With MNGIE-Like Features. [PDF]
Eur J NeurolABSTRACT Background Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is an extremely rare autosomal recessive disease caused by variants in the thymidine phosphorylase gene (TYMP), primarily characterized by severe gastrointestinal and neurological symptoms.
Capece G +13 more
europepmc +3 more sources
Meningoencephalitis in a novel mutation in MNGIE (mitochondrial neurogastrointestinal encephalomyopathy) ending a familial diagnostic odyssey: A case series report. [PDF]
J Cent Nerv Syst DisMNGIE (Mitochondrial Neurogastrointestinal Encephalomyopathy) is an ultra-rare autosomal recessive disorder that leads to mutations in the nuclear genes encoding thymidine phosphorylase.
Redha N +4 more
europepmc +4 more sources
Aseptic Pleocytosis Can Only be Classified as a Phenotypic Manifestation of MNGIE After Exclusion of all Differential Causes [PDF]
J Cent Nerv Syst DisHasan H.
europepmc +3 more sources
Mitochondrial Neurogastrointestinal Encephalomyopathy (MNGIE-MTDPS1) [PDF]
Journal of Clinical Medicine, 2018 Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE-MTDPS1) is a devastating autosomal recessive disorder due to mutations in TYMP, which cause a loss of function of thymidine phosphorylase (TP), nucleoside accumulation in plasma and tissues, and mitochondrial dysfunction. The clinical picture includes progressive gastrointestinal dysmotility,
Massimiliano Filosto +2 more
exaly +6 more sources
Mitochondrial Neurogastrointestinal Encephalopathy (MNGIE) Disease. [PDF]
Arch Iran Med, 2022 Badv RS +3 more
europepmc +4 more sources
An Unfortunate Cause of Chronic Nausea and Vomiting: Mitochondrial Neurogastrointestinal Encephalomyopathy (MNGIE) [PDF]
Case Reports in Gastrointestinal Medicine, 2022 We present a unique case of a 24-year-old male who was admitted for intractable nausea, emesis, weight loss, and abdominal discomfort. The patient underwent an extensive workup and was diagnosed with mitochondrial neurogastrointestinal encephalopathy ...
Neethi Dasu +3 more
openalex +2 more sources