U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Links from Books

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
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

Recent clinical studies

Etiology

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 diseases caused by toxic compound accumulation: from etiopathology to therapeutic approaches.
Di Meo I, Lamperti C, Tiranti V
EMBO Mol Med 2015 Oct;7(10):1257-66. doi: 10.15252/emmm.201505040. PMID: 26194912Free PMC Article
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
Defects in mitochondrial DNA replication and human disease.
Copeland WC
Crit Rev Biochem Mol Biol 2012 Jan-Feb;47(1):64-74. doi: 10.3109/10409238.2011.632763. PMID: 22176657Free PMC Article
Disorders of nuclear-mitochondrial intergenomic signaling.
Spinazzola A, Zeviani M
Gene 2005 Jul 18;354:162-8. doi: 10.1016/j.gene.2005.03.025. PMID: 15921863

Diagnosis

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
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
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
Chronic intestinal pseudo-obstruction.
Hirano I, Pandolfino J
Dig Dis 2000;18(2):83-92. doi: 10.1159/000016969. PMID: 11060471

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

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
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 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
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
Gastrointestinal dysmotility in mitochondrial neurogastrointestinal encephalomyopathy is caused by mitochondrial DNA depletion.
Giordano C, Sebastiani M, De Giorgio R, Travaglini C, Tancredi A, Valentino ML, Bellan M, Cossarizza A, Hirano M, d'Amati G, Carelli V
Am J Pathol 2008 Oct;173(4):1120-8. Epub 2008 Sep 11 doi: 10.2353/ajpath.2008.080252. PMID: 18787099Free PMC Article

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Reviews

    Related information

    Recent activity

    Clear Turn Off Turn On

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...