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

Autor:	Gokalp S; Department of Pediatric Metabolic Disorders, Gazi University Faculty of Medicine, Ankara, Türkiye., Inci A; Department of Pediatric Metabolic Disorders, Gazi University Faculty of Medicine, Ankara, Türkiye., Kilic A; Department of Pediatric Metabolic Disorders, Gazi University Faculty of Medicine, Ankara, Türkiye., Ozsaydi E; Department of Pediatric Metabolic Disorders, Gazi University Faculty of Medicine, Ankara, Türkiye., Altun AN; Department of Pediatric Metabolic Disorders, Gazi University Faculty of Medicine, Ankara, Türkiye., Demir F; Department of Pediatric Metabolic Disorders, Gazi University Faculty of Medicine, Ankara, Türkiye., Ergin FB; Department of Pediatric Metabolic Disorders, Gazi University Faculty of Medicine, Ankara, Türkiye., Ozbek MN; Department of Pediatrics, Dicle University Faculty of Medicine, Diyarbakır, Türkiye., Okur I; Department of Pediatric Metabolic Disorders, Gazi University Faculty of Medicine, Ankara, Türkiye., Ezgu F; Department of Pediatric Metabolic Disorders, Gazi University Faculty of Medicine, Ankara, Türkiye., Tumer L; Department of Pediatric Metabolic Disorders, Gazi University Faculty of Medicine, Ankara, Türkiye.
Jazyk:	angličtina
Zdroj:	Journal of pediatric endocrinology & metabolism : JPEM [J Pediatr Endocrinol Metab] 2024 Apr 18; Vol. 37 (6), pp. 571-574. Date of Electronic Publication: 2024 Apr 18 (Print Publication: 2024).
DOI:	10.1515/jpem-2023-0569
Abstrakt:	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. (© 2024 Walter de Gruyter GmbH, Berlin/Boston.)
Databáze:	MEDLINE
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