TITLE:
Combined Oxidative Phosphorylation Deficiency-20-Exome as a Diagnostic Implement
AUTHORS:
Paulo Roberto Matos-Neto, Lucas Antonissen Lima Verde, Airton Ferreira da Ponte-Filho, Luís Eduardo Oliveira Matos, Amandha Espavier Trés, Paulo Roberto Lacerda Leal, Gerardo Cristino-Filho, Regina Coeli de Carvalho Porto Carneiro
KEYWORDS:
Oxidative Phosphorylation, Epilepsy, Exome, Mitochondrial Defect, VARS2
JOURNAL NAME:
Journal of Biosciences and Medicines,
Vol.12 No.6,
June
5,
2024
ABSTRACT: Mitochondrial disorders are phenotypically varied, with serious clinical repercussions. Among them, there is the deficiency of combined oxidative phosphorylation of type 20, which occurs due to a defect in the VARS2 gene. This article presents a case of a 2-year-old female with progressive myoclonic epilepsy and psychomotor regression, with refractoriness to multiple anticonvulsants. The diagnosis was only made after the examination was carried out. Therefore, this article highlights the aspects of this rare disease and the importance of the exome for the diagnosis of rare conditions.