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.

中文翻译：

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与TRMU基因突变相关的Leigh综合征

tRNA 5-甲基氨基甲基-2-硫尿苷酸甲基转移酶（TRMU）缺乏会引起潜在的可逆性急性肝衰竭的早期发作，迄今报道不到30例患者。我们描述了两名新的不相关的患者，他们患有急性肝功能衰竭，并且由于TRMU缺乏而与Leigh综合征（LS）兼容的神经影像学，以前没有报道过这种组合。我们的报告扩大了TRMU疾病的表型范围。