与TRMU基因突变相关的 Leigh 综合征。
Leigh syndrome associated with TRMU gene mutations.
作者信息
Sala-Coromina Júlia, Miguel Lucía Dougherty-de, de Las Heras Javier, Lasa-Aranzasti Amaia, Garcia-Arumi Elena, Carreño Lidia, Arranz Jose Antonio, Carnicer Clara, Unceta-Suárez María, Sanchez-Montañez Angel, Gort Laura, Tort Frederic, Del Toro Mireia
机构信息
Pediatric Neurology Department, Vall d'Hebron University Hospital, Universitat Autónoma de Barcelona, Spain.
Division of Pediatric Metabolism, Cruces University Hospital, Biocruces-Bizkaia Health Research Institute, CIBER-ER; University of the Basque Country (UPV/EHU), Spain.
出版信息
Mol Genet Metab Rep. 2020 Dec 15;26:100690. doi: 10.1016/j.ymgmr.2020.100690. eCollection 2021 Mar.
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.
转运RNA 5-甲基氨基甲基-2-硫尿苷酸甲基转移酶（TRMU）缺乏会导致早发性、可能可逆的急性肝衰竭，迄今为止报道的患者不到30例。我们描述了两名新的非亲属患者，他们因TRMU缺乏而出现急性肝衰竭，且神经影像学表现与 Leigh 综合征（LS）相符，这种组合此前未曾报道。我们的报告扩展了TRMU疾病的表型谱。
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