Department of Pediatric Metabolic Disorders, Gazi University Faculty of Medicine, Ankara, Türkiye.
Department of Pediatrics, Dicle University Faculty of Medicine, Diyarbakır, Türkiye.
J Pediatr Endocrinol Metab. 2024 Apr 18;37(6):571-574. doi: 10.1515/jpem-2023-0569. Print 2024 Jun 25.
The mitochondrial elongation factor Tu (EF-Tu), encoded by the TUFM gene, is a GTPase, which is part of the mitochondrial protein translation mechanism. If it is activated, it delivers the aminoacyl-tRNAs to the mitochondrial ribosome. Here, a patient was described with a homozygous missense variant in the TUFM [c.1016G>A (p.Arg339Gln)] gene. To date, only six patients have been reported with bi-allelic pathogenic variants in TUFM, leading to combined oxidative phosphorylation deficiency 4 (COXPD4) characterized by severe early-onset lactic acidosis, encephalopathy, and cardiomyopathy.
The patient presented here had the phenotypic features of TUFM-related disease, lactic acidosis, hypotonia, liver dysfunction, optic atrophy, and mild encephalopathy.
We aimed to expand the clinical spectrum of pathogenic variants of TUFM.
线粒体延伸因子 Tu（EF-Tu）由 TUFM 基因编码，是一种 GTP 酶，是线粒体蛋白翻译机制的一部分。如果它被激活，它会将氨酰-tRNA 递送到线粒体核糖体。在这里，描述了一名 TUFM [c.1016G>A (p.Arg339Gln)] 基因纯合错义变异的患者。迄今为止，只有六名患者报告存在 TUFM 的双等位致病性变异，导致联合氧化磷酸化缺陷 4（COXPD4），其特征是严重的早发性乳酸性酸中毒、脑病和心肌病。
这里介绍的患者具有与 TUFM 相关疾病的表型特征，包括乳酸性酸中毒、张力减退、肝功能障碍、视神经萎缩和轻度脑病。
我们旨在扩展 TUFM 致病性变异的临床谱。
