Combined Oxidative Phosphorylation Deficiency 32 (COXPD32)

Combined Oxidative Phosphorylation Deficiency 32, also known as coxpd32, is related to combined oxidative phosphorylation deficiency 1 and metabolic acidosis. An important gene associated with Combined Oxidative Phosphorylation Deficiency 32 is MRPS34 (Mitochondrial Ribosomal Protein S34). Affiliated tissues include brain and kidney, and related phenotypes are increased serum lactate and lactic acidosis