Combined Oxidative Phosphorylation Deficiency-20-Exome as a Diagnostic Implement  

作　　者：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 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(Faculty of Medicine, Federal University of Cear, Sobral, Cear, Brazil;Department of Neurosurgery, Federal University of Cear, Sobral, Cear, Brazil;Department of Neuropediatrics, Federal University of Cear, Sobral, Cear, Brazil)

机构地区：[1]Faculty of Medicine, Federal University of Cear, Sobral, Cear, Brazil [2]Department of Neurosurgery, Federal University of Cear, Sobral, Cear, Brazil [3]Department of Neuropediatrics, Federal University of Cear, Sobral, Cear, Brazil

出　　处：《Journal of Biosciences and Medicines》2024年第6期7-12,共6页生物科学与医学（英文）

摘　　要：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.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.

关 键 词：Oxidative Phosphorylation EPILEPSY EXOME Mitochondrial Defect VARS2 

分 类 号：R73[医药卫生—肿瘤]