{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,20]],"date-time":"2026-08-20T14:57:09Z","timestamp":1787237829972,"version":"build-2736575974"},"reference-count":13,"publisher":"Walter de Gruyter GmbH","issue":"6","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2024,6,25]]},"abstract":"Abstract<\/jats:title>\n \n Objectives<\/jats:title>\n 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.<\/jats:p>\n <\/jats:sec>\n \n Case presentation<\/jats:title>\n The patient presented here had the phenotypic features of TUFM-related disease, lactic acidosis, hypotonia, liver dysfunction, optic atrophy, and mild encephalopathy<\/jats:p>\n <\/jats:sec>\n \n Conclusions<\/jats:title>\n We aimed to expand the clinical spectrum of pathogenic variants of TUFM.<\/jats:p>\n <\/jats:sec>","DOI":"10.1515\/jpem-2023-0569","type":"journal-article","created":{"date-parts":[[2024,4,17]],"date-time":"2024-04-17T15:10:27Z","timestamp":1713366627000},"page":"571-574","source":"Crossref","is-referenced-by-count":3,"title":["A very rare presentation of mitochondrial elongation factor Tu deficiency-\n TUFM<\/i>\n mutation and literature review"],"prefix":"10.1515","volume":"37","author":[{"given":"Sabire","family":"Gokalp","sequence":"first","affiliation":[{"name":"Department of Pediatric Metabolic Disorders , Gazi University Faculty of Medicine , Ankara , T\u00fcrkiye"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0561-2060","authenticated-orcid":false,"given":"Asli","family":"Inci","sequence":"additional","affiliation":[{"name":"Department of Pediatric Metabolic Disorders , Gazi University Faculty of Medicine , Ankara , T\u00fcrkiye"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ayse","family":"Kilic","sequence":"additional","affiliation":[{"name":"Department of Pediatric Metabolic Disorders , Gazi University Faculty of Medicine , Ankara , T\u00fcrkiye"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ekin","family":"Ozsaydi","sequence":"additional","affiliation":[{"name":"Department of Pediatric Metabolic Disorders , Gazi University Faculty of Medicine , Ankara , T\u00fcrkiye"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2561-2516","authenticated-orcid":false,"given":"Ayse Nur","family":"Altun","sequence":"additional","affiliation":[{"name":"Department of Pediatric Metabolic Disorders , Gazi University Faculty of Medicine , Ankara , T\u00fcrkiye"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fevzi","family":"Demir","sequence":"additional","affiliation":[{"name":"Department of Pediatric Metabolic Disorders , Gazi University Faculty of Medicine , Ankara , T\u00fcrkiye"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Filiz Basak","family":"Ergin","sequence":"additional","affiliation":[{"name":"Department of Pediatric Metabolic Disorders , Gazi University Faculty of Medicine , Ankara , T\u00fcrkiye"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mehmet Nuri","family":"Ozbek","sequence":"additional","affiliation":[{"name":"Department of Pediatrics , Dicle University Faculty of Medicine , Diyarbak\u0131r , T\u00fcrkiye"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ilyas","family":"Okur","sequence":"additional","affiliation":[{"name":"Department of Pediatric Metabolic Disorders , Gazi University Faculty of Medicine , Ankara , T\u00fcrkiye"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fatih","family":"Ezgu","sequence":"additional","affiliation":[{"name":"Department of Pediatric Metabolic Disorders , Gazi University Faculty of Medicine , Ankara , T\u00fcrkiye"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Leyla","family":"Tumer","sequence":"additional","affiliation":[{"name":"Department of Pediatric Metabolic Disorders , Gazi University Faculty of Medicine , Ankara , T\u00fcrkiye"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"374","published-online":{"date-parts":[[2024,4,18]]},"reference":[{"key":"2024060508271886188_j_jpem-2023-0569_ref_001","doi-asserted-by":"crossref","unstructured":"Greaves, LC, Reeve, AK, Taylor, RW, Turnbull, DM. Mitochondrial DNA and disease. J Pathol 2012;226:274\u201386. https:\/\/doi.org\/10.1002\/path.3028.","DOI":"10.1002\/path.3028"},{"key":"2024060508271886188_j_jpem-2023-0569_ref_002","doi-asserted-by":"crossref","unstructured":"Christian, BE, Spremulli, LL. Mechanism of protein biosynthesis in mammalian mitochondria. Biochim Biophys Acta 2012;1819:1035\u201354. https:\/\/doi.org\/10.1016\/j.bbagrm.2011.11.009.","DOI":"10.1016\/j.bbagrm.2011.11.009"},{"key":"2024060508271886188_j_jpem-2023-0569_ref_003","doi-asserted-by":"crossref","unstructured":"Rotig, A. Human diseases with impaired mitochondrial protein synthesis. Biochim Biophys Acta 2011;1807:1198\u2013205. https:\/\/doi.org\/10.1016\/j.bbabio.2011.06.010.","DOI":"10.1016\/j.bbabio.2011.06.010"},{"key":"2024060508271886188_j_jpem-2023-0569_ref_004","doi-asserted-by":"crossref","unstructured":"Smits, P, Smeitink, J, van den Heuvel, L. Mitochondrial translation and beyond processes implicated in combined oxidative phosphorylation deficiencies. J Biomed Biotechnol 2010;2010:737385. https:\/\/doi.org\/10.1155\/2010\/737385.","DOI":"10.1155\/2010\/737385"},{"key":"2024060508271886188_j_jpem-2023-0569_ref_005","doi-asserted-by":"crossref","unstructured":"Vafai, SB, Mootha, VK. Mitochondrial disorders as windows into an ancient organelle. Nature 2012;491:374\u201383. https:\/\/doi.org\/10.1038\/nature11707.","DOI":"10.1038\/nature11707"},{"key":"2024060508271886188_j_jpem-2023-0569_ref_006","doi-asserted-by":"crossref","unstructured":"Boczonadi, V, Horvath, R. Mitochondria: impaired mitochondrial translation in human disease. Int J Biochem Cell Biol 2014;48:77\u201384. https:\/\/doi.org\/10.1016\/j.biocel.2013.12.011.","DOI":"10.1016\/j.biocel.2013.12.011"},{"key":"2024060508271886188_j_jpem-2023-0569_ref_007","doi-asserted-by":"crossref","unstructured":"Valente, L, Tiranti, V, Marsano, RM, Malfatti, E, Fernandez-Vizarra, E, Donnini, C, et al.. Infantile encephalopathy and defective mitochondrial DNA translation in patients with mutations of mitochondrial elongation factors EFG1 and EFTu. Am J Hum Genet 2007;80:44\u201358. https:\/\/doi.org\/10.1086\/510559.","DOI":"10.1086\/510559"},{"key":"2024060508271886188_j_jpem-2023-0569_ref_008","doi-asserted-by":"crossref","unstructured":"Robinson, JT, Thorvaldsdottir, H, Winckler, W, Guttman, M, Lander, ES, Getz, G, et al.. Integrative genomics viewer. 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