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...

Descripción completa

Detalles Bibliográficos
Autores: Sala Coromina, Julia, Dougherty de Miguel, Lucia, De las Heras Montero, Javier Adolfo, Lasa Aranzasti, Amaia, García Arumí, Elena, Carreño, Lidia, Arranz, José Antonio, Carnicer, Clara, Unceta Suárez, María, Sánchez Montañez, Ángel, Gort, Laura, Tort, Frederic, Del Toro, Mireia
Tipo de recurso: artículo
Fecha de publicación:2021
País:España
Institución:Universidad del País Vasco
Repositorio:Addi. Archivo Digital para la Docencia y la Investigación
OAI Identifier:oai:addi.ehu.eus:10810/51193
Acceso en línea:http://hdl.handle.net/10810/51193
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

Similares en LA Referencia