Journal of pediatric endocrinology & metabolism : JPEM · 2024
A very rare presentation of mitochondrial elongation factor Tu deficiency-TUFM mutation and literature review.
Клинический случайСтатьяОбзорНазвание и аннотация: Перевод в очереди
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Gokalp Sabire, Inci Asli, Kilic Ayse, Ozsaydi Ekin, Altun Ayse Nur, Demir Fevzi, Ergin Filiz Basak, Ozbek Mehmet Nuri, Okur Ilyas, Ezgu Fatih, Tumer Leyla
Аннотация
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.
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.