What can pyruvate dehydrogenase deficiency potentially cause?

Pyruvate dehydrogenase deficiency leads to a disruption in the conversion of pyruvate to acetyl-CoA, which is a crucial step in the metabolic pathway that links glycolysis to the citric acid cycle. This deficiency can result in the accumulation of pyruvate and a subsequent increase in lactate levels, leading to lactic acidosis. As a consequence of the impaired energy production, particularly in tissues that are highly dependent on aerobic metabolism such as the brain, it is common for individuals with this deficiency to experience neurological issues.

The delayed development associated with this condition stems from the brain’s reliance on efficient energy production; without adequate energy, cognitive and motor development can be adversely affected. Therefore, the potential for delayed development is a direct consequence of the metabolic impairment caused by the deficiency in pyruvate dehydrogenase, validating the correctness of this choice.