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

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

doi:10.1515/jpem-2023-0569

Article

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

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

Published/Copyright: April 18, 2024

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From the journal Journal of Pediatric Endocrinology and Metabolism Volume 37 Issue 6

Abstract

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.

Keywords: mitochondiral diseases; TUFM mutation; combined oxidative phosphorylation deficiency 4

Corresponding author: Sabire Gokalp, MD, Department of Pediatric Metabolic Disorders, Gazi University Faculty of Medicine, Ankara, Türkiye, E-mail: sabire32@hotmail.com

Research ethics: Not applicable.
Informed consent: Informed consent was obtained from all individuals included in this study, or their legal guardians or wards.
Author contributions: The authors have accepted responsibility for the entire content of this manuscript and approved its submission.
Competing interests: The authors state no conflict of interest.
Research funding: None declared.
Data availability: Not applicable.

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Received: 2023-12-25

Accepted: 2024-04-02

Published Online: 2024-04-18

Published in Print: 2024-06-25

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Articles in the same Issue

https://doi.org/10.1515/jpem-2023-0569

Keywords for this article

mitochondiral diseases; TUFM mutation; combined oxidative phosphorylation deficiency 4