A very rare presentation of mitochondrial elongation factor Tu deficiency-TUFM mutation and literature review
Journal of Pediatric Endocrinology and Metabolism, vol.37, no.6, pp.571-574, 2024 (SCI-Expanded, Scopus)
- Publication Type: Article / Article
- Volume: 37 Issue: 6
- Publication Date: 2024
- Doi Number: 10.1515/jpem-2023-0569
- Journal Name: Journal of Pediatric Endocrinology and Metabolism
- Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus, BIOSIS, CAB Abstracts, MEDLINE
- Page Numbers: pp.571-574
- Keywords: combined oxidative phosphorylation deficiency 4, mitochondiral diseases, TUFM mutation
- Gazi University Affiliated: Yes
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.