Leigh syndrome associated with TRMU gene mutations.
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ABSTRACT:
SUBMITTER: Sala-Coromina J
PROVIDER: S-EPMC7749400 | biostudies-literature | 2021 Mar
REPOSITORIES: biostudies-literature
Publications
Leigh syndrome associated with TRMU gene mutations.
Sala-Coromina Júlia J Miguel Lucía Dougherty-de LD de Las Heras Javier J Lasa-Aranzasti Amaia A Garcia-Arumi Elena E Carreño Lidia L Arranz Jose Antonio JA Carnicer Clara C Unceta-Suárez María M Sanchez-Montañez Angel A Gort Laura L Tort Frederic F Del Toro Mireia M
Molecular genetics and metabolism reports 20201215
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. ...[more]
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