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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Detalles Bibliográficos
Autores: 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
Tipo de recurso: artículo
Fecha de publicación:2020
País:España
Institución:Universitat Autònoma de Barcelona
Repositorio:Dipòsit Digital de Documents de la UAB
Idioma:inglés
OAI Identifier:oai:ddd.uab.cat:238711
Acceso en línea:https://ddd.uab.cat/record/238711
https://dx.doi.org/urn:doi:10.1016/j.ymgmr.2020.100690
Access Level:acceso abierto
Palabra clave:TRMU
Acute liver failure
Leigh syndrome
Mitochondrial disease
Descripción
Sumario: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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