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- Endocrinology
- Endocrinology, Diabetes and Metabolism
- Pediatrics, Perinatology and Child Health
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.