A very rare presentation of mitochondrial elongation factor Tu deficiency-TUFM mutation and literature review.
J Pediatr Endocrinol Metab
; 37(6): 571-574, 2024 Jun 25.
Article
en En
| MEDLINE
| ID: mdl-38630895
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.Palabras clave
Texto completo:
1
Banco de datos:
MEDLINE
Asunto principal:
Factor Tu de Elongación Peptídica
Límite:
Humans
Idioma:
En
Revista:
J Pediatr Endocrinol Metab
Asunto de la revista:
ENDOCRINOLOGIA
/
PEDIATRIA
Año:
2024
Tipo del documento:
Article