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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
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
Pathogenesis and treatment of mitochondrial myopathies: recent advances.
DiMauro S
Acta Myol 2010 Oct;29(2):333-8. PMID: 21314015Free 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 metabolic remodeling in TYMP deficiency beyond mitochondrial dysfunction.
Du J, Zhang C, Liu F, Liu X, Wang D, Zhao D, Shui G, Zhao Y, Yan C
J Mol Med (Berl) 2023 Oct;101(10):1237-1253. Epub 2023 Aug 21 doi: 10.1007/s00109-023-02358-9. PMID: 37603049
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
Liver transplantation in mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): clinical long-term follow-up and pathogenic implications.
D'Angelo R, Boschetti E, Amore G, Costa R, Pugliese A, Caporali L, Gramegna LL, Papa V, Vizioli L, Capristo M, Contin M, Mohamed S, Cenacchi G, Lodi R, Morelli MC, Fasano L, Pisani L, Cescon M, Tonon C, Pinna AD, Dotti MT, Sicurelli F, Scarpelli M, Filosto M, Casali C, Pironi L, Carelli V, De Giorgio R, Rinaldi R
J Neurol 2020 Dec;267(12):3702-3710. Epub 2020 Jul 18 doi: 10.1007/s00415-020-10051-x. PMID: 32683607
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

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
Ocular manifestations of mitochondrial neurogastrointestinal encephalomyopathy: A case report and literature review.
Wang H, Ruan G, Yang S, Li H, Sun Z, Tian B, Yan P, Li Y, Yang H, Zhong Y, Qian J
Am J Med Genet A 2023 Dec;191(12):2819-2824. Epub 2023 Aug 2 doi: 10.1002/ajmg.a.63361. PMID: 37530213
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
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 (MNGIE): a disease of two genomes.
Hirano M, Nishigaki Y, Martí R
Neurologist 2004 Jan;10(1):8-17. doi: 10.1097/01.nrl.0000106919.06469.04. PMID: 14720311

Therapy

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
Peripheral neuropathy and gastroenterologic disorders: an overview on an underrecognized association.
Spagnoli C, Pisani F, Di Mario F, Leandro G, Gaiani F, De' Angelis GL, Fusco C
Acta Biomed 2018 Dec 17;89(9-S):22-32. doi: 10.23750/abm.v89i9-S.7956. PMID: 30561392Free 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
Pathogenesis and treatment of mitochondrial myopathies: recent advances.
DiMauro S
Acta Myol 2010 Oct;29(2):333-8. PMID: 21314015Free PMC Article
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 metabolic remodeling in TYMP deficiency beyond mitochondrial dysfunction.
Du J, Zhang C, Liu F, Liu X, Wang D, Zhao D, Shui G, Zhao Y, Yan C
J Mol Med (Berl) 2023 Oct;101(10):1237-1253. Epub 2023 Aug 21 doi: 10.1007/s00109-023-02358-9. PMID: 37603049
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
Clinical and genetic spectrum of mitochondrial neurogastrointestinal encephalomyopathy.
Garone C, Tadesse S, Hirano M
Brain 2011 Nov;134(Pt 11):3326-32. Epub 2011 Sep 20 doi: 10.1093/brain/awr245. PMID: 21933806Free PMC Article

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