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.
Acute liver failure; Leigh syndrome; TRMU
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.
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