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Article

A very rare presentation of mitochondrial elongation factor Tu deficiency-TUFM mutation and literature review.

Journal of pediatric endocrinology & metabolism : JPEM - 25 Jun 2024

Gokalp Sabire, Inci Asli, Kilic Ayse, Ozsaydi Ekin, Altun Ayse Nur, Demir Fevzi, Ergin Filiz Basak, Ozbek Mehmet Nuri, Okur Ilyas, Ezgu Fatih, Tumer Leyla

Abstract excerpt

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...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 38630895
DOI: 10.1515/jpem-2023-0569

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026.

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