Leigh syndrome associated with TRMU gene mutations

tRNA 5-methylaminomethyl-2-thiouridylate methyltransferase (TRMU) deficiency causes an early onset potentially reversible acute liver failure, so far reported in less than 30 patients. We describe two new unrelated patients with an acute liver failure and a neuroimaging compatible with Leigh syndrom...

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Authors: Sala-Coromina, Júlia|||0000-0001-5116-6316, Miguel, Lucía Dougherty-de, de las Heras, Javier, Lasa-Aranzasti, Amaia|||0000-0002-9136-5106, García Arumí, Elena|||0000-0003-1848-005X, Carreño Gago, Lidia, Arranz-Amo, Jose Antonio|||0000-0002-2236-4185, Carnicer, Clara, Unceta-Suárez, María, Sánchez Montáñez, Ángel, Gort, Laura|||0000-0003-4746-1034, Tort, Frederic|||0000-0003-2733-1603, Del Toro, Mireia|||0000-0002-8163-1853
Format: article
Publication Date:2020
Country:España
Institution:Universitat Autònoma de Barcelona
Repository:Dipòsit Digital de Documents de la UAB
Language:English
OAI Identifier:oai:ddd.uab.cat:238711
Online Access:https://ddd.uab.cat/record/238711
https://dx.doi.org/urn:doi:10.1016/j.ymgmr.2020.100690
Access Level:Open access
Keyword:TRMU
Acute liver failure
Leigh syndrome
Mitochondrial disease
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spelling Leigh syndrome associated with TRMU gene mutationsSala-Coromina, Júlia|||0000-0001-5116-6316Miguel, Lucía Dougherty-dede las Heras, JavierLasa-Aranzasti, Amaia|||0000-0002-9136-5106García Arumí, Elena|||0000-0003-1848-005XCarreño Gago, LidiaArranz-Amo, Jose Antonio|||0000-0002-2236-4185Carnicer, ClaraUnceta-Suárez, MaríaSánchez Montáñez, ÁngelGort, Laura|||0000-0003-4746-1034Tort, Frederic|||0000-0003-2733-1603Del Toro, Mireia|||0000-0002-8163-1853TRMUAcute liver failureLeigh syndromeMitochondrial diseasetRNA 5-methylaminomethyl-2-thiouridylate methyltransferase (TRMU) deficiency causes an early onset potentially reversible acute liver failure, so far reported in less than 30 patients. We describe two new unrelated patients with an acute liver failure and a neuroimaging compatible with Leigh syndrome (LS) due to TRMU deficiency, a combination not previously reported. Our report enlarges the phenotypical spectrum of TRMU disease.Universitat Autònoma de Barcelona 22020-01-0120202020-01-01Articlehttp://purl.org/coar/resource_type/c_6501VoRhttp://purl.org/coar/version/c_970fb48d4fbd8a85info:eu-repo/semantics/articleapplication/pdfhttps://ddd.uab.cat/record/238711https://dx.doi.org/urn:doi:10.1016/j.ymgmr.2020.100690reponame:Dipòsit Digital de Documents de la UABinstname:Universitat Autònoma de BarcelonaInglésengopen accesshttp://purl.org/coar/access_right/c_abf2Aquest document està subjecte a una llicència d'ús Creative Commons. Es permet la reproducció total o parcial, la distribució, i la comunicació pública de l'obra, sempre que no sigui amb finalitats comercials, i sempre que es reconegui l'autoria de l'obra original. No es permet la creació d'obres derivades.https://creativecommons.org/licenses/by-nc-nd/4.0/info:eu-repo/semantics/openAccessoai:ddd.uab.cat:2387112026-06-06T12:50:31Z
dc.title.none.fl_str_mv Leigh syndrome associated with TRMU gene mutations
title Leigh syndrome associated with TRMU gene mutations
spellingShingle Leigh syndrome associated with TRMU gene mutations
Sala-Coromina, Júlia|||0000-0001-5116-6316
TRMU
Acute liver failure
Leigh syndrome
Mitochondrial disease
title_short Leigh syndrome associated with TRMU gene mutations
title_full Leigh syndrome associated with TRMU gene mutations
title_fullStr Leigh syndrome associated with TRMU gene mutations
title_full_unstemmed Leigh syndrome associated with TRMU gene mutations
title_sort Leigh syndrome associated with TRMU gene mutations
dc.creator.none.fl_str_mv Sala-Coromina, Júlia|||0000-0001-5116-6316
Miguel, Lucía Dougherty-de
de las Heras, Javier
Lasa-Aranzasti, Amaia|||0000-0002-9136-5106
García Arumí, Elena|||0000-0003-1848-005X
Carreño Gago, Lidia
Arranz-Amo, Jose Antonio|||0000-0002-2236-4185
Carnicer, Clara
Unceta-Suárez, María
Sánchez Montáñez, Ángel
Gort, Laura|||0000-0003-4746-1034
Tort, Frederic|||0000-0003-2733-1603
Del Toro, Mireia|||0000-0002-8163-1853
author Sala-Coromina, Júlia|||0000-0001-5116-6316
author_facet Sala-Coromina, Júlia|||0000-0001-5116-6316
Miguel, Lucía Dougherty-de
de las Heras, Javier
Lasa-Aranzasti, Amaia|||0000-0002-9136-5106
García Arumí, Elena|||0000-0003-1848-005X
Carreño Gago, Lidia
Arranz-Amo, Jose Antonio|||0000-0002-2236-4185
Carnicer, Clara
Unceta-Suárez, María
Sánchez Montáñez, Ángel
Gort, Laura|||0000-0003-4746-1034
Tort, Frederic|||0000-0003-2733-1603
Del Toro, Mireia|||0000-0002-8163-1853
author_role author
author2 Miguel, Lucía Dougherty-de
de las Heras, Javier
Lasa-Aranzasti, Amaia|||0000-0002-9136-5106
García Arumí, Elena|||0000-0003-1848-005X
Carreño Gago, Lidia
Arranz-Amo, Jose Antonio|||0000-0002-2236-4185
Carnicer, Clara
Unceta-Suárez, María
Sánchez Montáñez, Ángel
Gort, Laura|||0000-0003-4746-1034
Tort, Frederic|||0000-0003-2733-1603
Del Toro, Mireia|||0000-0002-8163-1853
author2_role author
author
author
author
author
author
author
author
author
author
author
author
dc.contributor.none.fl_str_mv Universitat Autònoma de Barcelona
dc.subject.none.fl_str_mv TRMU
Acute liver failure
Leigh syndrome
Mitochondrial disease
topic TRMU
Acute liver failure
Leigh syndrome
Mitochondrial disease
description tRNA 5-methylaminomethyl-2-thiouridylate methyltransferase (TRMU) deficiency causes an early onset potentially reversible acute liver failure, so far reported in less than 30 patients. We describe two new unrelated patients with an acute liver failure and a neuroimaging compatible with Leigh syndrome (LS) due to TRMU deficiency, a combination not previously reported. Our report enlarges the phenotypical spectrum of TRMU disease.
publishDate 2020
dc.date.none.fl_str_mv 2
2020-01-01
2020
2020-01-01
dc.type.none.fl_str_mv Article
http://purl.org/coar/resource_type/c_6501
VoR
http://purl.org/coar/version/c_970fb48d4fbd8a85
dc.type.openaire.fl_str_mv info:eu-repo/semantics/article
format article
dc.identifier.none.fl_str_mv https://ddd.uab.cat/record/238711
https://dx.doi.org/urn:doi:10.1016/j.ymgmr.2020.100690
url https://ddd.uab.cat/record/238711
https://dx.doi.org/urn:doi:10.1016/j.ymgmr.2020.100690
dc.language.none.fl_str_mv Inglés
eng
language_invalid_str_mv Inglés
language eng
dc.rights.none.fl_str_mv open access
http://purl.org/coar/access_right/c_abf2
https://creativecommons.org/licenses/by-nc-nd/4.0/
dc.rights.openaire.fl_str_mv info:eu-repo/semantics/openAccess
rights_invalid_str_mv open access
http://purl.org/coar/access_right/c_abf2
https://creativecommons.org/licenses/by-nc-nd/4.0/
eu_rights_str_mv openAccess
dc.format.none.fl_str_mv application/pdf
dc.source.none.fl_str_mv reponame:Dipòsit Digital de Documents de la UAB
instname:Universitat Autònoma de Barcelona
instname_str Universitat Autònoma de Barcelona
reponame_str Dipòsit Digital de Documents de la UAB
collection Dipòsit Digital de Documents de la UAB
repository.name.fl_str_mv
repository.mail.fl_str_mv
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score 15,300719

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