Results 51 to 60 of about 1,276 (185)

MELAS‐Like Mitochondrial Encephalopathy With Catatonia Associated With a Pathogenic MT‐ND3 (m.10158 T > C) Mutation: A Case Report and Literature Review

Progress in Neurology and Psychiatry, Volume 30, Issue 2, May 2026.
Abstract Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke‐like episodes (MELAS) is a rare multisystem mitochondrial disorder primarily caused by mutations in mitochondrial DNA. While it typically presents with stroke‐like episodes, seizures, and lactic acidosis, recent evidence highlights a broader clinical spectrum, including ...
Faezeh Khorshidian, Vajiheh Aghamollaii, Mohammadreza Mousavipour, Setareh Rassa   +3 more
wiley   +1 more source

Allogeneic stem cell transplantation corrects biochemical derangements in MNGIE.

, 2006
Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is a multisystemic autosomal recessive disease due to primary thymidine phosphorylase (TP) deficiency.
FINE B, HESDORFFER C, SCHWARTZ J, MARTONE DL, ESCOLAR DM, HAWKS RG, GARVIN JH JR, ULDRICK T, SAVAGE DG, DIMAURO S, MARTI R, TADESSE S, CAIRO, MS, NISHINO I, VALENTINO ML, CASALI, Carlo, STANZANI M, HIRANO M   +17 more
core   +2 more sources

Hemodialysis in MNGIE transiently reduces serum and urine levels of thymidine and deoxyuridine, but not CSF levels and neurological function

Orphanet Journal of Rare Diseases, 2017
Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is a rare, autosomal-recessive mitochondrial disorder caused by TYMP mutations presenting with a multisystemic, often lethal syndrome of progressive leukoencephalopathy, ophthalmoparesis ...
Benjamin Röeben, Justus Marquetand, Benjamin Bender, Heiko Billing, Tobias B. Haack, Iciar Sanchez-Albisua, Ludger Schöls, Henk J. Blom, Matthis Synofzik   +8 more
doaj   +1 more source

Mitochondrial DNA Depletion Syndrome 1 (MTDPS1)—A Novel Cause of Premature Ovarian Insufficiency

Clinical Genetics, Volume 109, Issue 4, Page 784-787, April 2026.
We describe a woman with MNGIE due to a novel homozygous TYMP nonsense variant and propose MNGIE as the cause of her premature ovarian insufficiency—a rarely reported association—highlighting the need to consider mitochondrial disease in unexplained POI, especially in atypical, consanguineous presentations. ABSTRACT Mitochondrial DNA depletion syndrome
Michael Matheou, Helen Turner, Deborah Shears, Fredrik Karpe   +3 more
wiley   +1 more source

Liver transplantation in mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): clinical long-term follow-up and pathogenic implications

, 2020
We report the longest follow-up of clinical and biochemical features of two previously reported adult mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) patients treated with liver transplantation (LT), adding information on a third, recently ...
Amore G., De Giorgio R., Morelli M. C., Sicurelli F., Caporali L., Casali C., Pisani L., Carelli V., Filosto M., Vizioli L., Lodi R., Cenacchi G., Tonon C., Fasano L., Pinna A. D., Boschetti E., Costa R., Gramegna L. L., Rinaldi R., Dotti M. T., Pugliese A., Contin M., Scarpelli M., Papa V., D'Angelo R., Capristo M., Cescon M., Mohamed S., Pironi L.   +28 more
core   +2 more sources

Limited dCTP availability accounts for mitochondrial DNA depletion in mitochondrial neurogastrointestinal encephalomyopathy (MNGIE). [PDF]

PLoS Genetics, 2011
Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is a severe human disease caused by mutations in TYMP, the gene encoding thymidine phosphorylase (TP).
Emiliano González-Vioque, Javier Torres-Torronteras, Antoni L Andreu, Ramon Martí   +3 more
doaj   +1 more source

International Forum on Visceral Myopathy 2024: Advances in the Knowledge of the Disease

Neurogastroenterology &Motility, Volume 38, Issue 4, April 2026.
As an orphan disease, where treatment is not curative and diagnosis is often slow, VSCM represents a serious health and social problem requiring research efforts in several directions. ABSTRACT Background Visceral myopathy (VSCM) is an ultra‐rare life‐threatening condition characterized by severe impairment of gastrointestinal (GI), genitourinary, and ...
Pascal de Santa Barbara, Isabella Ceccherini, Robert O. Heuckeroth, Carlo Di Lorenzo, Maria M. Alves, Arthur Beyder, Osvaldo Borrelli, Ludovica Cacopardo, Rachel Ceron, Jihong Chen, Federica Chiappori, Antonio Contessa, Roberto De Giorgio, Antonella Diamanti, Maria Grazia Faticato, Sandrine Faure, Sohaib K. Hashmi, Jan D. Huizinga, Raj P. Kapur, Cecile Lambe, Laurence Lancon, Ryan McManigal, Hayat Mousa, Alessandro Palmitelli, Victor Perreaux, Alessio Pini Prato, Michela Pitto, Elisa Proietti, John Rendu, Anna Rybak, Kenton M. Sanders, Sabah Sardar, Vincenzo Stanghellini, Renato Tambucci, Nikhil Thapar, Pieter Vanden Berghe, Massimo Vassalli, Qianqian Wang, Michael Wangler, Sharon Wolfson, Almira Zada, Jiliang Zhou, Federica Viti   +42 more
wiley   +1 more source

Variabilidad genotipo fenotipo en encefalopatía neurogastrointestinal mitocondrial MNGIE por una mutación sin codón de parada

Acta Neurológica Colombiana, 2015
La encefalopatía neurogastrointestinal mitocondrial (MNGIE) es una enfermedad genética que se manifiesta desde los primeros años de vida con episodios de íleo, obstrucción intestinal, trastorno de deglución, falla de medro, miopatía, neuropatía ...
Blair Ortiz Giraldo, Diego Ferrnando Batero, Jorge Hernán Montoya, Juan Manuel Alfaro, Alejandra Wilches   +4 more
doaj  

Loss of thymidine phosphorylase activity disrupts adipocyte differentiation and induces insulin-resistant lipoatrophic diabetes

BMC Medicine, 2022
Background Thymidine phosphorylase (TP), encoded by the TYMP gene, is a cytosolic enzyme essential for the nucleotide salvage pathway. TP catalyzes the phosphorylation of the deoxyribonucleosides, thymidine and 2′-deoxyuridine, to thymine and uracil ...
Jérémie Gautheron, Lara Lima, Baris Akinci, Jamila Zammouri, Martine Auclair, Sema Kalkan Ucar, Samim Ozen, Canan Altay, Bridget E. Bax, Ivan Nemazanyy, Véronique Lenoir, Carina Prip-Buus, Cécile Acquaviva-Bourdain, Olivier Lascols, Bruno Fève, Corinne Vigouroux, Esther Noel, Isabelle Jéru   +17 more
doaj   +1 more source

Impiego della dialisi peritoneale nell'encefalopatia mitochondriale neurogastrointestinale (MNGIE): un Caso Clinico

Giornale di Clinica Nefrologia e Dialisi, 2018
L'Encefalomiopatia Mitocondriale Neurogastrointestinale (MNGIE) è una rara malattia autosomica recessiva causata da mutazioni del gene ECGF1 che codifica per l'enzima Timidina-Fosforilasi, il quale regola il catabolismo della timidina e della ...
M.P. Zito, S. Maldone, I. Capelli, F. Centofanti, C. Raimondi   +4 more
doaj   +1 more source