Why is Pyruvate Dehydrogenase Deficiency Problematic?
In PDD, mutations in the genes encoding the subunits of the PDC lead to its malfunction. As a result, pyruvate accumulates and is shunted towards lactate production, causing lactic acidosis. This disrupts the balance of energy production and can lead to severe neurological and metabolic disorders. The inability to efficiently convert pyruvate into acetyl-CoA impairs the cell's ability to generate ATP through the citric acid cycle and oxidative phosphorylation.
