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Mitochondrial neurogastrointestinal encephalomyopathy

MedGen UID:
167876
•Concept ID:
C0872218
•
Disease or Syndrome
Synonyms: Mitochondrial neurogastrointestinal encephalopathy syndrome; MNGIE syndrome; Thymidine phosphorylase deficiency
SNOMED CT: Mitochondrial neurogastrointestinal encephalomyopathy syndrome (718214007)
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
•Concept ID:
C0441748
•
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
Autosomal recessive inheritance (Orphanet)
 
Monarch Initiative: MONDO:0017575
OMIM®: 590060; 603041
Orphanet: ORPHA298

Definition

Syndrome with the association of gastrointestinal dysmotility, peripheral neuropathy, chronic progressive external ophthalmoplegia and leukoencephalopathy. The symptoms are progressive and the clinical picture is dominated by severe gastrointestinal disorders due to abnormal bowel motility. Morphological studies of the muscles reveal the presence of a low proportion of muscle fibres with mitochondrial proliferation (ragged-red fibres) or cytochrome c oxidase deficiency. Inherited in an autosomal recessive manner and is caused by mutations in the TYMP gene (22q13.32-qter). [from SNOMEDCT_US]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVMitochondrial neurogastrointestinal encephalomyopathy

Professional guidelines

PubMed

Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): Position paper on diagnosis, prognosis, and treatment by the MNGIE International Network.
Hirano M, Carelli V, De Giorgio R, Pironi L, Accarino A, Cenacchi G, D'Alessandro R, Filosto M, Martí R, Nonino F, Pinna AD, Baldin E, Bax BE, Bolletta A, Bolletta R, Boschetti E, Cescon M, D'Angelo R, Dotti MT, Giordano C, Gramegna LL, Levene M, Lodi R, Mandel H, Morelli MC, 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
J Inherit Metab Dis 2021 Mar;44(2):376-387. Epub 2020 Sep 8 doi: 10.1002/jimd.12300. PMID: 32898308Free PMC Article
Mitochondrial Neurogastrointestinal Encephalomyopathy in the Differential Diagnosis of Eating Disorders.
Nagata JM, Buckelew SM
J Adolesc Health 2017 Nov;61(5):661. Epub 2017 Sep 19 doi: 10.1016/j.jadohealth.2017.06.023. PMID: 28935389
Allogeneic hematopoietic SCT as treatment option for patients with mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): a consensus conference proposal for a standardized approach.
Halter J, Schüpbach W, Casali C, Elhasid R, Fay K, Hammans S, Illa I, Kappeler L, Krähenbühl S, Lehmann T, Mandel H, Marti R, Mattle H, Orchard K, Savage D, Sue CM, Valcarcel D, Gratwohl A, Hirano M
Bone Marrow Transplant 2011 Mar;46(3):330-337. Epub 2010 May 3 doi: 10.1038/bmt.2010.100. PMID: 20436523Free PMC Article

Recent clinical studies

Etiology

Primary mitochondrial diseases.
Pizzamiglio C, Hanna MG, Pitceathly RDS
Handb Clin Neurol 2024;204:53-76. doi: 10.1016/B978-0-323-99209-1.00004-1. PMID: 39322395
Distinctive gastrointestinal motor dysfunction in patients with MNGIE.
Alcalá-González LG, Accarino A, Martí R, Sánchez-Tejerina D, Llauradó A, Azpiroz F, Malagelada C
Neurogastroenterol Motil 2023 Oct;35(10):e14643. Epub 2023 Jul 13 doi: 10.1111/nmo.14643. PMID: 37448106
Hematopoietic stem cell transplantation with reduced toxicity conditioning regimen in mitochondrial neurogastrointestinal encephalopathy syndrome.
Ozek G, Aksoylar S, Uçar SK, Canda E, Akcan M, Cartı O, Siviş ZO, Oymak Y, Yazıcı H, Bax B, Bulut FD, Yoldaş Çelik M, Erdem F, Çoker M, Kansoy S
Pediatr Blood Cancer 2023 Jul;70(7):e30334. Epub 2023 Apr 12 doi: 10.1002/pbc.30334. PMID: 37046411
Mitochondrial syndromes with leukoencephalopathies.
Wong LJ
Semin Neurol 2012 Feb;32(1):55-61. Epub 2012 Mar 15 doi: 10.1055/s-0032-1306387. PMID: 22422207
A novel thymidine phosphorylase mutation in a Spanish MNGIE patient.
Gamez J, Lara MC, Mearin F, Oliveras-Ley C, Raguer N, Olive M, Leist AT, Perello A, Perona M, Cervera C, Andreu AL, Martí R, Hirano M
J Neurol Sci 2005 Jan 15;228(1):35-9. Epub 2004 Nov 12 doi: 10.1016/j.jns.2004.09.034. PMID: 15607208

Diagnosis

Primary mitochondrial diseases.
Pizzamiglio C, Hanna MG, Pitceathly RDS
Handb Clin Neurol 2024;204:53-76. doi: 10.1016/B978-0-323-99209-1.00004-1. PMID: 39322395
Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): Position paper on diagnosis, prognosis, and treatment by the MNGIE International Network.
Hirano M, Carelli V, De Giorgio R, Pironi L, Accarino A, Cenacchi G, D'Alessandro R, Filosto M, Martí R, Nonino F, Pinna AD, Baldin E, Bax BE, Bolletta A, Bolletta R, Boschetti E, Cescon M, D'Angelo R, Dotti MT, Giordano C, Gramegna LL, Levene M, Lodi R, Mandel H, Morelli MC, 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
J Inherit Metab Dis 2021 Mar;44(2):376-387. Epub 2020 Sep 8 doi: 10.1002/jimd.12300. PMID: 32898308Free PMC Article
Pearls & Oy-sters: Mitochondrial neurogastrointestinal encephalomyopathy: Diagnosis and response to peritoneal dialysis.
Sivadasan A, Muthusamy K, Patil AK, Mathew V, Alexander M
Neurology 2016 Apr 5;86(14):e147-e150. doi: 10.1212/WNL.0000000000002536. PMID: 27044617
Chronic intestinal pseudo-obstruction.
Cogliandro RF, De Giorgio R, Barbara G, Cogliandro L, Concordia A, Corinaldesi R, Stanghellini V
Best Pract Res Clin Gastroenterol 2007;21(4):657-69. doi: 10.1016/j.bpg.2007.03.002. PMID: 17643907
Chronic intestinal pseudo-obstruction.
Hirano I, Pandolfino J
Dig Dis 2000;18(2):83-92. doi: 10.1159/000016969. PMID: 11060471

Therapy

Hematopoietic stem cell transplantation with reduced toxicity conditioning regimen in mitochondrial neurogastrointestinal encephalopathy syndrome.
Ozek G, Aksoylar S, Uçar SK, Canda E, Akcan M, Cartı O, Siviş ZO, Oymak Y, Yazıcı H, Bax B, Bulut FD, Yoldaş Çelik M, Erdem F, Çoker M, Kansoy S
Pediatr Blood Cancer 2023 Jul;70(7):e30334. Epub 2023 Apr 12 doi: 10.1002/pbc.30334. PMID: 37046411
Ongoing Developments and Clinical Progress in Drug-Loaded Red Blood Cell Technologies.
Rossi L, Pierigè F, Aliano MP, Magnani M
BioDrugs 2020 Jun;34(3):265-272. doi: 10.1007/s40259-020-00415-0. PMID: 32198632Free PMC Article
Management of endocrino-metabolic dysfunctions after allogeneic hematopoietic stem cell transplantation.
Vantyghem MC, Cornillon J, Decanter C, Defrance F, Karrouz W, Leroy C, Le Mapihan K, Couturier MA, De Berranger E, Hermet E, Maillard N, Marcais A, Francois S, Tabrizi R, Yakoub-Agha I; Société Française de Thérapie Cellulaire
Orphanet J Rare Dis 2014 Oct 29;9:162. doi: 10.1186/s13023-014-0162-0. PMID: 25496809Free PMC Article
Diagnosis and management of MNGIE syndrome in children: case report and review of the literature.
Teitelbaum JE, Berde CB, Nurko S, Buonomo C, Perez-Atayde AR, Fox VL
J Pediatr Gastroenterol Nutr 2002 Sep;35(3):377-83. doi: 10.1097/00005176-200209000-00029. PMID: 12352533
Chronic intestinal pseudo-obstruction.
Hirano I, Pandolfino J
Dig Dis 2000;18(2):83-92. doi: 10.1159/000016969. PMID: 11060471

Prognosis

Distinctive gastrointestinal motor dysfunction in patients with MNGIE.
Alcalá-González LG, Accarino A, Martí R, Sánchez-Tejerina D, Llauradó A, Azpiroz F, Malagelada C
Neurogastroenterol Motil 2023 Oct;35(10):e14643. Epub 2023 Jul 13 doi: 10.1111/nmo.14643. PMID: 37448106
Biallelic variants in LIG3 cause a novel mitochondrial neurogastrointestinal encephalomyopathy.
Bonora E, Chakrabarty S, Kellaris G, Tsutsumi M, Bianco F, Bergamini C, Ullah F, Isidori F, Liparulo I, Diquigiovanni C, Masin L, Rizzardi N, Cratere MG, Boschetti E, Papa V, Maresca A, Cenacchi G, Casadio R, Martelli P, Matera I, Ceccherini I, Fato R, Raiola G, Arrigo S, Signa S, Sementa AR, Severino M, Striano P, Fiorillo C, Goto T, Uchino S, Oyazato Y, Nakamura H, Mishra SK, Yeh YS, Kato T, Nozu K, Tanboon J, Morioka I, Nishino I, Toda T, Goto YI, Ohtake A, Kosaki K, Yamaguchi Y, Nonaka I, Iijima K, Mimaki M, Kurahashi H, Raams A, MacInnes A, Alders M, Engelen M, Linthorst G, de Koning T, den Dunnen W, Dijkstra G, van Spaendonck K, van Gent DC, Aronica EM, Picco P, Carelli V, Seri M, Katsanis N, Duijkers FAM, Taniguchi-Ikeda M, De Giorgio R
Brain 2021 Jun 22;144(5):1451-1466. doi: 10.1093/brain/awab056. PMID: 33855352
Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): Position paper on diagnosis, prognosis, and treatment by the MNGIE International Network.
Hirano M, Carelli V, De Giorgio R, Pironi L, Accarino A, Cenacchi G, D'Alessandro R, Filosto M, Martí R, Nonino F, Pinna AD, Baldin E, Bax BE, Bolletta A, Bolletta R, Boschetti E, Cescon M, D'Angelo R, Dotti MT, Giordano C, Gramegna LL, Levene M, Lodi R, Mandel H, Morelli MC, 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
J Inherit Metab Dis 2021 Mar;44(2):376-387. Epub 2020 Sep 8 doi: 10.1002/jimd.12300. PMID: 32898308Free PMC Article
Mitochondrial Neurogastrointestinal Encephalomyopathy Syndrome Treated with Stem Cell Transplant: A Case Series and Literature Review.
Hanbali A, Rasheed W, Peedikayil MC, Boholega S, Alzahrani HA
Exp Clin Transplant 2018 Dec;16(6):773-778. Epub 2017 Apr 14 doi: 10.6002/ect.2016.0109. PMID: 28411356
Chronic intestinal pseudo-obstruction.
Hirano I, Pandolfino J
Dig Dis 2000;18(2):83-92. doi: 10.1159/000016969. PMID: 11060471

Clinical prediction guides

Distinctive gastrointestinal motor dysfunction in patients with MNGIE.
Alcalá-González LG, Accarino A, Martí R, Sánchez-Tejerina D, Llauradó A, Azpiroz F, Malagelada C
Neurogastroenterol Motil 2023 Oct;35(10):e14643. Epub 2023 Jul 13 doi: 10.1111/nmo.14643. PMID: 37448106
Biallelic variants in LIG3 cause a novel mitochondrial neurogastrointestinal encephalomyopathy.
Bonora E, Chakrabarty S, Kellaris G, Tsutsumi M, Bianco F, Bergamini C, Ullah F, Isidori F, Liparulo I, Diquigiovanni C, Masin L, Rizzardi N, Cratere MG, Boschetti E, Papa V, Maresca A, Cenacchi G, Casadio R, Martelli P, Matera I, Ceccherini I, Fato R, Raiola G, Arrigo S, Signa S, Sementa AR, Severino M, Striano P, Fiorillo C, Goto T, Uchino S, Oyazato Y, Nakamura H, Mishra SK, Yeh YS, Kato T, Nozu K, Tanboon J, Morioka I, Nishino I, Toda T, Goto YI, Ohtake A, Kosaki K, Yamaguchi Y, Nonaka I, Iijima K, Mimaki M, Kurahashi H, Raams A, MacInnes A, Alders M, Engelen M, Linthorst G, de Koning T, den Dunnen W, Dijkstra G, van Spaendonck K, van Gent DC, Aronica EM, Picco P, Carelli V, Seri M, Katsanis N, Duijkers FAM, Taniguchi-Ikeda M, De Giorgio R
Brain 2021 Jun 22;144(5):1451-1466. doi: 10.1093/brain/awab056. PMID: 33855352
Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): Position paper on diagnosis, prognosis, and treatment by the MNGIE International Network.
Hirano M, Carelli V, De Giorgio R, Pironi L, Accarino A, Cenacchi G, D'Alessandro R, Filosto M, Martí R, Nonino F, Pinna AD, Baldin E, Bax BE, Bolletta A, Bolletta R, Boschetti E, Cescon M, D'Angelo R, Dotti MT, Giordano C, Gramegna LL, Levene M, Lodi R, Mandel H, Morelli MC, 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
J Inherit Metab Dis 2021 Mar;44(2):376-387. Epub 2020 Sep 8 doi: 10.1002/jimd.12300. PMID: 32898308Free PMC Article
Thymidine phosphorylase is both a therapeutic and a suicide gene in a murine model of mitochondrial neurogastrointestinal encephalomyopathy.
López-Estévez S, Ferrer G, Torres-Torronteras J, Mansilla MJ, Casacuberta-Serra S, Martorell L, Hirano M, Martí R, Barquinero J
Gene Ther 2014 Jul;21(7):673-81. Epub 2014 May 8 doi: 10.1038/gt.2014.41. PMID: 24807807
A novel thymidine phosphorylase mutation in a Spanish MNGIE patient.
Gamez J, Lara MC, Mearin F, Oliveras-Ley C, Raguer N, Olive M, Leist AT, Perello A, Perona M, Cervera C, Andreu AL, Martí R, Hirano M
J Neurol Sci 2005 Jan 15;228(1):35-9. Epub 2004 Nov 12 doi: 10.1016/j.jns.2004.09.034. PMID: 15607208

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