Results 11 to 20 of about 1,276 (185)

MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOMYOPATHY (MNGIE) [PDF]

Acta Medica Iranica, 2006
Mitochondrial neurogastrointestinal encephalo-myopathy (MNGIE) is a rare autosomal recessive disease caused by thymidine phosphorylase (TP) gene mutation.
P. Ayatollahi, A. Tarazi S. Nafissi
doaj   +6 more sources

Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): Position paper on diagnosis, prognosis, and treatment by theMNGIEInternational Network [PDF]

Journal of Inherited Metabolic Disease, 2020
AbstractMitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is a rare autosomal recessive disease caused byTYMPmutations and thymidine phosphorylase (TP) deficiency. Thymidine and deoxyuridine accumulate impairing the mitochondrial DNA maintenance and integrity.
Hirano M., Carelli V., De Giorgio R., Pironi L., Accarino A., Cenacchi G., D'Alessandro R., Filosto M., Marti R., Nonino F., Pinna A. D., Baldin E., Bax B. E., Bolletta A., Bolletta R., Boschetti E., Cescon M., D'Angelo R., Dotti M. T., Giordano C., Gramegna L. L., Levene M., Lodi R., Mandel H., Morelli M. C., Musumeci O., Pugliese A., Scarpelli M., Siniscalchi A., Spinazzola A., Tal G., Torres-Torronteras J., Vignatelli L., Zaidman I., Zoller H., Rinaldi R., Zeviani M.   +36 more
openaire   +9 more sources

Wernicke Encephalopathy Complicating a Distinctive POLG Phenotype With MNGIE-Like Features. [PDF]

Eur J Neurol
ABSTRACT 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, Caumo L, Volta S, Riguzzi P, Sogus E, Petrosino A, Vianello S, Sabbatini D, Salviati L, Manara R, Viscomi C, Sorarù G, Bello L, Pegoraro E.   +13 more
europepmc   +3 more sources

Gastrointestinal Dysmotility in MNGIE: from thymidine phosphorylase enzyme deficiency to altered interstitial cells of Cajal

Orphanet Journal of Rare Diseases, 2019
Background MNGIE is a rare and fatal disease in which absence of the enzyme thymidine phosphorylase induces systemic accumulation of thymidine and deoxyuridine and secondary mitochondrial DNA alterations.
Rana Yadak, Marjolein Breur, Marianna Bugiani   +2 more
doaj   +2 more sources

CARRIER ERYTHROCYTE ENTRAPPED THYMIDINE PHOSPHORYLASE THERAPY FOR MNGIE [PDF]

Neurology, 2008
Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is an autosomal recessive condition caused by mutations in the nuclear gene ECGF1 coding for thymidine phosphorylase (TP).1,2 Clinical features include gastrointestinal dysmotility, peripheral sensorimotor polyneuropathy, progressive external ophthalmoplegia, and hepatopathy.
Moran, N. F., Bain, M. D., Muqit, M. M. K., Bax, B. E.   +3 more
openaire   +6 more sources

Poor Outcome in a Mitochondrial Neurogastrointestinal Encephalomyopathy Patient with a Novel TYMP Mutation: The Need for Early Diagnosis [PDF]

Case Reports in Neurology, 2012
Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is a devastating autosomal recessive disorder due to mutations in TYMP, which cause loss of function of thymidine phosphorylase (TP), nucleoside accumulation in plasma and tissues and ...
Mauro Scarpelli, Anna Russignan, Melinda Zombor, Csaba Bereczki, Francesca Zappini, Romina Buono, Bridget E. Bax, Alessandro Padovani, Paola Tonin, Massimiliano Filosto   +9 more
doaj   +2 more sources

Transplantation, gene therapy and intestinal pathology in MNGIE patients and mice [PDF]

BMC Gastroenterology, 2018
Background Gastrointestinal complications are the main cause of death in patients with mitochondrial neurogastrointestinal encephalomyopathy (MNGIE). Available treatments often restore biochemical homeostasis, but fail to cure gastrointestinal symptoms ...
Rana Yadak, Max V. Boot, Niek P. van Til, Dominique Cazals-Hatem, Armin Finkenstedt, Elly Bogaerts, Irenaeus F. de Coo, Marianna Bugiani   +7 more
doaj   +3 more sources

Trigeminal neuralgia in a patient with mitochondrial neurogastrointestinal encephalomyopathy (MNGIE)

Journal of Clinical Neuroscience, 2005
Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is an autosomal-recessive disease associated with multiple deletions of mitochondrial DNA in skeletal muscle. MNGIE is a multisystem syndrome affecting muscle, peripheral, and central nervous systems and the gastrointestinal tract. A 25-year-old man is presented with 3 years history of right
Selçuk, Peker, M, Necmettin Pamir
openaire   +4 more sources

Letter to the Editor: Gastrointestinal Pseudo-Obstruction Is Not an Uncommon Phenotypic Manifestation of POLG1 Variants-Authors' Reply. [PDF]

Eur J Neurol
European Journal of Neurology, Volume 33, Issue 6, June 2026.
Capece G, Manara R, Salviati L, Viscomi C, Bello L, Pegoraro E.   +5 more
europepmc   +2 more sources

A celiac case mimicking mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) [PDF]

The Turkish Journal of Pediatrics, 2016
Celiac disease (CD) is a chronic disease involving a number of systems in addition to gastrointestinal tract. Although not clear, it has been supposed that the neurological symptoms of CD develop due to immune-mediated mechanisms.
Erhan Aksoy, Serap Tıraş-Teber, Gülhis Deda   +2 more
doaj   +3 more sources