OXPHOS (Oxidative Phosphorylation) Deficiency

Oxidative phosphorylation (OXPHOS) deficiency occurs when the mitochondria, the cell’s energy-producing structures, can't generate enough ATP—the energy currency needed for cell functions. This process relies on a series of protein complexes (the electron transport chain) that transfer electrons to produce energy. When these complexes are impaired due to genetic mutations or damage, energy production drops, leading to cell dysfunction. OXPHOS deficiency can affect various organs, especially those with high energy demands like muscles and the brain, resulting in conditions such as muscle weakness, neurological issues, or organ failure.