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

GÖKALP S., İNCİ A., KILIÇ A., Ozsaydi E., ALTUN A. N., DEMİR F., ...Daha Fazla

Journal of Pediatric Endocrinology and Metabolism, cilt.37, sa.6, ss.571-574, 2024 (SCI-Expanded) identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 37 Sayı: 6
  • Basım Tarihi: 2024
  • Doi Numarası: 10.1515/jpem-2023-0569
  • Dergi Adı: Journal of Pediatric Endocrinology and Metabolism
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus, BIOSIS, CAB Abstracts, MEDLINE
  • Sayfa Sayıları: ss.571-574
  • Anahtar Kelimeler: combined oxidative phosphorylation deficiency 4, mitochondiral diseases, TUFM mutation
  • Gazi Üniversitesi Adresli: Evet

Özet

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.