Combined Oxidative Phosphorylation Deficiency 23 (COXPD23)

Combined Oxidative Phosphorylation Deficiency 23, also known as combined oxidative phosphorylation defect type 23, is related to combined oxidative phosphorylation deficiency and mitochondrial disease. An important gene associated with Combined Oxidative Phosphorylation Deficiency 23 is GTPBP3 (GTP Binding Protein 3, Mitochondrial), and among its related pathways/superpathways is tRNA Aminoacylation. Affiliated tissues include thalamus and brain, and related phenotypes are hypertrophic cardiomyopathy and lactic acidosis