Infantile encephalopathy and defective mitochondrial DNA translation in patients with mutations of mitochondrial elongation factors EFG1 and EFTu

A study is reported involving two infants affected by neonatal lactic acidosis, rapidly progressive encephalopathy, severely decreased mitochondrial protein synthesis and combined deficiency of mitochondrial DNA (mtDNA)-related mitochondrial respiratory chain (MRC) complexes. Genetic investigation of this defective mtDNA translation reveals novel mutations in the mitochondrial elongation factor G1 (EFG 1) and mitochondrial elongation factor Tu (EFTu) in the infants.