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    A very rare presentation of mitochondrial elongation factor Tu deficiency-TUFM mutation and literature review
    (Walter De Gruyter Gmbh, 2024) Gokalp, Sabire; Inci, Asli; Kilic, Ayse; Ozsaydi, Ekin; Altun, Ayse Nur; Demir, Fevzi; Ergin, Filiz Basak
    Objectives 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.