Leigh syndrome associated with TRMU gene mutations

Sala Coromina, Julia; 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; Dougherty-de Miguel, Lucia

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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)

Author

Sala Coromina, Julia

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

Dougherty-de Miguel, Lucia

Date

2021-03

Permanent link

https://hdl.handle.net/11351/7141

DOI

10.1016/j.ymgmr.2020.100690

ISSN

2214-4269

WOS

000618816000002

PMID

33365252

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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.