Combined Oxidative Phosphorylation Deficiency 1 (COXPD1)

Combined Oxidative Phosphorylation Deficiency 1, also known as hepatoencephalopathy due to combined oxidative phosphorylation defect type 1, is related to combined oxidative phosphorylation deficiency 39 and combined oxidative phosphorylation deficiency 13, and has symptoms including muscle spasticity and stiffness. An important gene associated with Combined Oxidative Phosphorylation Deficiency 1 is GFM1 (G Elongation Factor Mitochondrial 1), and among its related pathways/superpathways are Metabolism of proteins and Peptide chain elongation. The drugs Rifaximin and Gastrointestinal Agents have been mentioned in the context of this disorder. Affiliated tissues include liver and brain, and related phenotypes are hypertonia and cholestasis