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Review
. 2024 Apr 18;37(6):571-574.
doi: 10.1515/jpem-2023-0569. Print 2024 Jun 25.

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

Sabire Gokalp  1 , Asli Inci  1 , Ayse Kilic  1 , Ekin Ozsaydi  1 , Ayse Nur Altun  1 , Fevzi Demir  1 , Filiz Basak Ergin  1 , Mehmet Nuri Ozbek  2 , Ilyas Okur  1 , Fatih Ezgu  1 , Leyla Tumer  1
Affiliations
Review

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

Sabire Gokalp et al. J Pediatr Endocrinol Metab. .

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

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References

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