{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,21]],"date-time":"2026-10-21T23:36:50Z","timestamp":1792625810277,"version":"4.5.0"},"reference-count":58,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2020,9,8]],"date-time":"2020-09-08T00:00:00Z","timestamp":1599523200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["J of Inher Metab Disea"],"published-print":{"date-parts":[[2021,3]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:label\/><jats:p>Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is a rare autosomal recessive disease caused by<jats:italic>TYMP<\/jats:italic>mutations and thymidine phosphorylase (TP) deficiency. Thymidine and deoxyuridine accumulate impairing the mitochondrial DNA maintenance and integrity. Clinically, patients show severe and progressive gastrointestinal and neurological manifestations. The onset typically occurs in the second decade of life and mean age at death is 37\u2009years. Signs and symptoms of MNGIE are heterogeneous and confirmatory diagnostic tests are not routinely performed by most laboratories, accounting for common misdiagnosis. Factors predictive of progression and appropriate tests for monitoring are still undefined. Several treatment options showed promising results in restoring the biochemical imbalance of MNGIE. The lack of controlled studies with appropriate follow\u2010up accounts for the limited evidence informing diagnostic and therapeutic choices. The International Consensus Conference (ICC) on MNGIE, held in Bologna, Italy, on 30 March to 31 March 2019, aimed at an evidence\u2010based consensus on diagnosis, prognosis, and treatment of MNGIE among experts, patients, caregivers and other stakeholders involved in caring the condition. The conference was conducted according to the National Institute of Health Consensus Conference methodology. A consensus development panel formulated a set of statements and proposed a research agenda. Specifically, the ICC produced recommendations on: (a) diagnostic pathway; (b) prognosis and the main predictors of disease progression; (c) efficacy and safety of treatments; and (f) research priorities on diagnosis, prognosis, and treatment. The Bologna ICC on diagnosis, management and treatment of MNGIE provided evidence\u2010based guidance for clinicians incorporating patients' values and preferences.<\/jats:p><\/jats:sec>","DOI":"10.1002\/jimd.12300","type":"journal-article","created":{"date-parts":[[2020,8,9]],"date-time":"2020-08-09T12:59:08Z","timestamp":1596977948000},"page":"376-387","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":87,"title":["Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): Position paper on diagnosis, prognosis, and treatment by the<scp>MNGIE<\/scp>International Network"],"prefix":"10.1002","volume":"44","author":[{"given":"Michio","family":"Hirano","sequence":"first","affiliation":[{"name":"Department of Neurology Columbia University Irving Medical Center New York New York USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Valerio","family":"Carelli","sequence":"additional","affiliation":[{"name":"Department of Biomedical and Neuromotor Sciences University of Bologna Italy"},{"name":"IRCCS Istituto delle Scienze Neurologiche di Bologna Bologna Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Roberto","family":"De Giorgio","sequence":"additional","affiliation":[{"name":"Department of Morphology Surgery and Experimental Medicine, University of Ferrara Ferrara Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Loris","family":"Pironi","sequence":"additional","affiliation":[{"name":"Clinical Nutrition and Metabolism Unit and Center for Chronic Intestinal Failure, Department of Digestive System St. Orsola\u2010Malpighi Hospital, University of Bologna Bologna Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anna","family":"Accarino","sequence":"additional","affiliation":[{"name":"Digestive System Research Unit, University Hospital Vall d'Hebron \/ Centro de Investigaci\u00f3n Biom\u00e9dica en Red de Enfermeda des Hep\u00e1ticas y Digestivas (CIBEREHD); Departament de Medicina Universitat Aut\u00f2noma de Barcelona Barcelona Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Giovanna","family":"Cenacchi","sequence":"additional","affiliation":[{"name":"Department of Biomedical and Neuromotor Sciences University of Bologna Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Roberto","family":"D'Alessandro","sequence":"additional","affiliation":[{"name":"IRCCS Istituto delle Scienze Neurologiche di Bologna Bologna Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Massimiliano","family":"Filosto","sequence":"additional","affiliation":[{"name":"Center for Neuromuscular Diseases, Unit of Neurology, Azienda Socio Sanitaria Territoriale degli Spedali Civili and University of Brescia Brescia Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ramon","family":"Mart\u00ed","sequence":"additional","affiliation":[{"name":"Vall d'Hebron Research Institute, Centro de Investigaci\u00f3n Biom\u00e9dica en Red de Enfermedades Raras (CIBERER) Autonomous University of Barcelona Barcelona Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Francesco","family":"Nonino","sequence":"additional","affiliation":[{"name":"IRCCS Istituto delle Scienze Neurologiche di Bologna Bologna Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Antonio Daniele","family":"Pinna","sequence":"additional","affiliation":[{"name":"University of Bologna, St. Orsola\u2010Malpighi Hospital Bologna Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elisa","family":"Baldin","sequence":"additional","affiliation":[{"name":"IRCCS Istituto delle Scienze Neurologiche di Bologna Bologna Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bridget Elizabeth","family":"Bax","sequence":"additional","affiliation":[{"name":"Institute of Molecular and Clinical Sciences, St George's University of London London UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alessio","family":"Bolletta","sequence":"additional","affiliation":[{"name":"Mitochondrial Patients, Mitocon ONLUS Rome Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Riccardo","family":"Bolletta","sequence":"additional","affiliation":[{"name":"Mitochondrial Patients, Mitocon ONLUS Rome Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elisa","family":"Boschetti","sequence":"additional","affiliation":[{"name":"Department of Medical and Surgical Sciences University of Bologna Bologna Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Matteo","family":"Cescon","sequence":"additional","affiliation":[{"name":"General Surgery and Transplant Unit, Department of Medical and Surgical Sciences University of Bologna Bologna Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Roberto","family":"D'Angelo","sequence":"additional","affiliation":[{"name":"IRCCS Istituto delle Scienze Neurologiche di Bologna, UOC Interaziendale Metropolitana (NeuroMet), \u2010 Neurologia AOU S.Orsola\u2010Malpighi Bologna Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria Teresa","family":"Dotti","sequence":"additional","affiliation":[{"name":"Neurological and Metabolic Diseases Clinic, Siena Hospital, Department of Medicine, Surgery and Neuroscience University of Siena Siena Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carla","family":"Giordano","sequence":"additional","affiliation":[{"name":"Department of Radiological, Oncological and Pathological Sciences Sapienza, University of Rome Umberto I Policlinic, Rome Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Laura Ludovica","family":"Gramegna","sequence":"additional","affiliation":[{"name":"Department of Biomedical and Neuromotor Sciences University of Bologna Italy"},{"name":"IRCCS Istituto delle Scienze Neurologiche di Bologna Bologna Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michelle","family":"Levene","sequence":"additional","affiliation":[{"name":"Institute of Molecular and Clinical Sciences, St George's University of London London UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Raffaele","family":"Lodi","sequence":"additional","affiliation":[{"name":"Department of Biomedical and Neuromotor Sciences University of Bologna Italy"},{"name":"IRCCS Istituto delle Scienze Neurologiche di Bologna Bologna Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hanna","family":"Mandel","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics and Inherited Metabolic Disorders Galilee Medical Center Nahariya Israel"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria Cristina","family":"Morelli","sequence":"additional","affiliation":[{"name":"Department for Care of Organ Failures and Transplants Internal Medicine for the Treatment of Severe Organ Failures, St. Orsola\u2010Malpighi Hospital Bologna Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Olimpia","family":"Musumeci","sequence":"additional","affiliation":[{"name":"Department of Clinical and Experimental Medicine University of Messina Messina Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alessia","family":"Pugliese","sequence":"additional","affiliation":[{"name":"Department of Clinical and Experimental Medicine University of Messina Messina Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mauro","family":"Scarpelli","sequence":"additional","affiliation":[{"name":"Neurology Unit, Department of Neuroscience Azienda Ospedaliero Universitaria Integrata Verona Verona Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Antonio","family":"Siniscalchi","sequence":"additional","affiliation":[{"name":"Anaesthesiology Intensive Care and Transplantation Unit St. Orsola\u2010Malpighi Hospital Bologna Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Antonella","family":"Spinazzola","sequence":"additional","affiliation":[{"name":"Department of Clinical Movement Neurosciences Royal Free Campus, University College of London, Queen Square Institute of Neurology London UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Galit","family":"Tal","sequence":"additional","affiliation":[{"name":"Metabolic Unit Ruth Rappaport Children's Hospital, Rambam Health Care Campus Haifa Israel"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Javier","family":"Torres\u2010Torronteras","sequence":"additional","affiliation":[{"name":"Vall d'Hebron Research Institute, Centro de Investigaci\u00f3n Biom\u00e9dica en Red de Enfermedades Raras (CIBERER) Autonomous University of Barcelona Barcelona Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Luca","family":"Vignatelli","sequence":"additional","affiliation":[{"name":"IRCCS Istituto delle Scienze Neurologiche di Bologna Bologna Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Irina","family":"Zaidman","sequence":"additional","affiliation":[{"name":"Department of Bone Marrow Transplantation Hadassah University Medical Center Jerusalem Israel"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Heinz","family":"Zoller","sequence":"additional","affiliation":[{"name":"Department of Internal Medicine I Medical University of Innsbruck Innsbruck Austria"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rita","family":"Rinaldi","sequence":"additional","affiliation":[{"name":"IRCCS Istituto delle Scienze Neurologiche di Bologna, UOC Interaziendale Metropolitana (NeuroMet), \u2010 Neurologia AOU S.Orsola\u2010Malpighi Bologna Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Massimo","family":"Zeviani","sequence":"additional","affiliation":[{"name":"Department of Neurosciences Veneto Institute of Molecular Medicine, University of Padova Padova Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2020,9,8]]},"reference":[{"key":"e_1_2_11_2_1","doi-asserted-by":"publisher","DOI":"10.3389\/fgene.2018.00669"},{"key":"e_1_2_11_3_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10072-016-2552-7"},{"key":"e_1_2_11_4_1","doi-asserted-by":"publisher","DOI":"10.1053\/j.gastro.2018.12.011"},{"key":"e_1_2_11_5_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awr245"},{"key":"e_1_2_11_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/1531-8249(200006)47:6<792::AID-ANA12>3.0.CO;2-Y"},{"key":"e_1_2_11_7_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awv226"},{"key":"e_1_2_11_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/ana.24724"},{"key":"e_1_2_11_9_1","doi-asserted-by":"publisher","DOI":"10.1517\/21678707.2015.1090307"},{"key":"e_1_2_11_10_1","doi-asserted-by":"publisher","DOI":"10.1089\/hum.2018.217"},{"key":"e_1_2_11_11_1","doi-asserted-by":"publisher","DOI":"10.1089\/hum.2015.160"},{"key":"e_1_2_11_12_1","doi-asserted-by":"publisher","DOI":"10.1089\/hum.2017.133"},{"key":"e_1_2_11_13_1","doi-asserted-by":"publisher","DOI":"10.1038\/mt.2014.6"},{"key":"e_1_2_11_14_1","doi-asserted-by":"publisher","DOI":"10.1186\/s12876-018-0881-0"},{"key":"e_1_2_11_15_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.omtm.2018.01.001"},{"key":"e_1_2_11_16_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.semarthrit.2010.12.001"},{"key":"e_1_2_11_17_1","volume-title":"Sistema Nazionale Linee Guida. Manuale Metodologico. Come realizzare una confrenza di consenso","author":"Candiani G","year":"2009"},{"key":"e_1_2_11_18_1","doi-asserted-by":"publisher","DOI":"10.1186\/1471-2288-11-92"},{"key":"e_1_2_11_19_1","doi-asserted-by":"publisher","DOI":"10.1136\/bmj.b2535"},{"key":"e_1_2_11_20_1","volume-title":"Clinical Practice Guideline Process Manual","author":"Gronseth GS","year":"2011"},{"key":"e_1_2_11_21_1","doi-asserted-by":"publisher","DOI":"10.3174\/ajnr.A5507"},{"issue":"788","key":"e_1_2_11_22_1","first-page":"1","article-title":"Quantification of plasma and urine thymidine and 2\u2032\u2010Deoxyuridine by LC\u2010MS\/MS for the Pharmacodynamic evaluation of erythrocyte encapsulated thymidine Phosphorylase in patients with mitochondrial Neurogastrointestinal Encephalomyopathy","volume":"9","author":"Kipper K","year":"2020","journal-title":"J Clin Med"},{"key":"e_1_2_11_23_1","doi-asserted-by":"publisher","DOI":"10.1373\/clinchem.2003.026179"},{"key":"e_1_2_11_24_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jchromb.2014.01.003"},{"key":"e_1_2_11_25_1","doi-asserted-by":"publisher","DOI":"10.1172\/JCI17828"},{"key":"e_1_2_11_26_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M111028200"},{"key":"e_1_2_11_27_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.febslet.2007.06.042"},{"key":"e_1_2_11_28_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-011-9332-6"},{"key":"e_1_2_11_29_1","doi-asserted-by":"publisher","DOI":"10.1053\/j.gastro.2006.01.004"},{"key":"e_1_2_11_30_1","doi-asserted-by":"publisher","DOI":"10.1002\/ana.20615"},{"key":"e_1_2_11_31_1","doi-asserted-by":"publisher","DOI":"10.2214\/ajr.182.6.1821537"},{"key":"e_1_2_11_32_1","doi-asserted-by":"publisher","DOI":"10.1177\/197140091302600505"},{"key":"e_1_2_11_33_1","doi-asserted-by":"publisher","DOI":"10.1148\/radiol.13130531"},{"key":"e_1_2_11_34_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.50.1.99"},{"key":"e_1_2_11_35_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320180426"},{"key":"e_1_2_11_36_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2009.08.013"},{"key":"e_1_2_11_37_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0000000000003374"},{"key":"e_1_2_11_38_1","doi-asserted-by":"publisher","DOI":"10.1007\/s40620-014-0069-9"},{"key":"e_1_2_11_39_1","doi-asserted-by":"publisher","DOI":"10.1136\/bcr-2016-218276"},{"key":"e_1_2_11_40_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0b013e3182a6cb4b"},{"key":"e_1_2_11_41_1","doi-asserted-by":"publisher","DOI":"10.1155\/2015\/453714"},{"key":"e_1_2_11_42_1","doi-asserted-by":"crossref","first-page":"310","DOI":"10.4103\/ijn.IJN_404_17","article-title":"Mitochondrial neurogastrointestinal encephalomyopathy: a nonrenal indication for peritoneal dialysis","volume":"28","author":"Chandra VS","year":"2018","journal-title":"Indian J Nephrol"},{"key":"e_1_2_11_43_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.mito.2017.02.006"},{"key":"e_1_2_11_44_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00415-012-6572-9"},{"key":"e_1_2_11_45_1","doi-asserted-by":"publisher","DOI":"10.1007\/8904_2012_199"},{"key":"e_1_2_11_46_1","first-page":"773","article-title":"Mitochondrial Neurogastrointestinal Encephalomyopathy syndrome treated with stem cell transplant: a case series and literature review","volume":"16","author":"Hanbali A","year":"2018","journal-title":"Exp Clin Transplant"},{"key":"e_1_2_11_47_1","doi-asserted-by":"publisher","DOI":"10.1212\/01.wnl.0000240853.97716.24"},{"key":"e_1_2_11_48_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.transci.2013.01.014"},{"key":"e_1_2_11_49_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2020.03.001"},{"key":"e_1_2_11_50_1","doi-asserted-by":"publisher","DOI":"10.1002\/jms.1013"},{"key":"e_1_2_11_51_1","doi-asserted-by":"publisher","DOI":"10.1212\/01.wnl.0000239824.95411.52"},{"key":"e_1_2_11_52_1","doi-asserted-by":"publisher","DOI":"10.3390\/jcm8040457"},{"key":"e_1_2_11_53_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.omtm.2018.08.007"},{"key":"e_1_2_11_54_1","doi-asserted-by":"publisher","DOI":"10.1212\/01.wnl.0000324602.97205.ab"},{"key":"e_1_2_11_55_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.hemonc.2014.12.001"},{"key":"e_1_2_11_56_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13023-017-0687-0"},{"key":"e_1_2_11_57_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00415-012-6500-z"},{"key":"e_1_2_11_58_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0000000000002536"},{"key":"e_1_2_11_59_1","doi-asserted-by":"publisher","DOI":"10.1001\/archneur.64.3.435"}],"container-title":["Journal of Inherited Metabolic Disease"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fjimd.12300","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/jimd.12300","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/jimd.12300","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/jimd.12300","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,8,11]],"date-time":"2024-08-11T14:39:21Z","timestamp":1723387161000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/jimd.12300"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,9,8]]},"references-count":58,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2021,3]]}},"alternative-id":["10.1002\/jimd.12300"],"URL":"https:\/\/doi.org\/10.1002\/jimd.12300","archive":["Portico"],"relation":{},"ISSN":["0141-8955","1573-2665"],"issn-type":[{"value":"0141-8955","type":"print"},{"value":"1573-2665","type":"electronic"}],"subject":[],"published":{"date-parts":[[2020,9,8]]},"assertion":[{"value":"2020-04-20","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2020-08-05","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2020-09-08","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}