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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Autores principales: Sala-Coromina, Júlia, Miguel, Lucía Dougherty-de, de las Heras, Javier, Lasa-Aranzasti, Amaia, Garcia-Arumi, Elena, Carreño, Lidia, Arranz, Jose Antonio, Carnicer, Clara, Unceta-Suárez, María, Sanchez-Montañez, Angel, Gort, Laura, Tort, Frederic, del Toro, Mireia
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2020
Materias:
Short Communication
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7749400/
https://www.ncbi.nlm.nih.gov/pubmed/33365252
http://dx.doi.org/10.1016/j.ymgmr.2020.100690
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author Sala-Coromina, Júlia
Miguel, Lucía Dougherty-de
de las Heras, Javier
Lasa-Aranzasti, Amaia
Garcia-Arumi, Elena
Carreño, Lidia
Arranz, Jose Antonio
Carnicer, Clara
Unceta-Suárez, María
Sanchez-Montañez, Angel
Gort, Laura
Tort, Frederic
del Toro, Mireia
author_facet Sala-Coromina, Júlia
Miguel, Lucía Dougherty-de
de las Heras, Javier
Lasa-Aranzasti, Amaia
Garcia-Arumi, Elena
Carreño, Lidia
Arranz, Jose Antonio
Carnicer, Clara
Unceta-Suárez, María
Sanchez-Montañez, Angel
Gort, Laura
Tort, Frederic
del Toro, Mireia
author_sort Sala-Coromina, Júlia
collection PubMed
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.
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spelling pubmed-77494002020-12-22 Leigh syndrome associated with TRMU gene mutations Sala-Coromina, Júlia Miguel, Lucía Dougherty-de de las Heras, Javier Lasa-Aranzasti, Amaia Garcia-Arumi, Elena Carreño, Lidia Arranz, Jose Antonio Carnicer, Clara Unceta-Suárez, María Sanchez-Montañez, Angel Gort, Laura Tort, Frederic del Toro, Mireia Mol Genet Metab Rep Short Communication 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. Elsevier 2020-12-15 /pmc/articles/PMC7749400/ /pubmed/33365252 http://dx.doi.org/10.1016/j.ymgmr.2020.100690 Text en © 2020 The Authors http://creativecommons.org/licenses/by-nc-nd/4.0/ This is an open access article under the CC BY-NC-ND license (http://creativecommons.org/licenses/by-nc-nd/4.0/).
spellingShingle Short Communication
Sala-Coromina, Júlia
Miguel, Lucía Dougherty-de
de las Heras, Javier
Lasa-Aranzasti, Amaia
Garcia-Arumi, Elena
Carreño, Lidia
Arranz, Jose Antonio
Carnicer, Clara
Unceta-Suárez, María
Sanchez-Montañez, Angel
Gort, Laura
Tort, Frederic
del Toro, Mireia
Leigh syndrome associated with TRMU gene mutations
title 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_short Leigh syndrome associated with TRMU gene mutations
title_sort leigh syndrome associated with trmu gene mutations
topic Short Communication
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7749400/
https://www.ncbi.nlm.nih.gov/pubmed/33365252
http://dx.doi.org/10.1016/j.ymgmr.2020.100690
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