Gokalp, SabireInci, AsliKilic, AyseOzsaydi, EkinAltun, Ayse NurDemir, FevziErgin, Filiz Basak2024-04-242024-04-2420240334-018X2191-0251https://doi.org/10.1515/jpem-2023-0569https://hdl.handle.net/11468/18532Objectives 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. Case presentation The patient presented here had the phenotypic features of TUFM-related disease, lactic acidosis, hypotonia, liver dysfunction, optic atrophy, and mild encephalopathy Conclusions We aimed to expand the clinical spectrum of pathogenic variants of TUFM.eninfo:eu-repo/semantics/closedAccessMitochondiral DiseasesTufm MutationCombined Oxidative Phosphorylation Deficiency 4A very rare presentation of mitochondrial elongation factor Tu deficiency-TUFM mutation and literature reviewA very rare presentation of mitochondrial elongation factor Tu deficiency-TUFM mutation and literature reviewArticleWOS:0012040107000013863089510.1515/jpem-2023-0569N/A