Leigh syndrome associated with TRMU gene mutations

Sala Coromina, Julia; Dougherty-de Miguel, Lucia; de las Heras, Javier; Lasa Aranzasti, Amaia; García Arumí, Elena; Carreño Gago, Lidia; Arranz Amo, José Antonio; Carnicer Cáceres, Clara; Sánchez-Montáñez García-Carpintero, Ángel; del Toro Riera, Mireia

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Leigh syndrome associated with TRMU gene mutations, 2021 (783.0Kb)

Leigh syndrome associated with TRMU gene mutations, 2021. Material suplementari (189.7Kb)

Date

2021-03

Author

Sala Coromina, Julia

Dougherty-de Miguel, Lucia

de las Heras, Javier

Lasa Aranzasti, Amaia

García Arumí, Elena

Carreño Gago, Lidia

Arranz Amo, José Antonio

Carnicer Cáceres, Clara

Sánchez-Montáñez García-Carpintero, Ángel

del Toro Riera, Mireia

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Abstract

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.

Keywords

Acute liver failure; Leigh syndrome; TRMU

Bibliographic citation

Sala-Coromina J, Miguel LD, de las Heras J, Lasa-Aranzasti A, Garcia-Arumi E, Carreño L, et al. Leigh syndrome associated with TRMU gene mutations. Mol Genet Metab Reports. 2021 Mar;26:100690.