What is a common symptom of pyruvate dehydrogenase deficiency?

Pyruvate dehydrogenase deficiency is associated with several neurological symptoms due to the impaired conversion of pyruvate to acetyl-CoA, which is essential for energy production in cells, especially in the brain. A common symptom of this deficiency is seizures, which occur because the brain relies heavily on aerobic metabolism for energy. When pyruvate cannot be properly converted, it leads to a buildup of lactate and other metabolites, disrupting normal neuronal function and increasing the likelihood of seizures. This highlights the critical role of the citric acid cycle and the importance of efficient energy metabolism in maintaining neurological health.

In contrast, options such as increased energy levels or improved cognitive function would not be expected as a result of this deficiency, since energy production is compromised. Heightened muscle tone is also not typically associated with this condition, making seizures the most relevant and indicative symptom of pyruvate dehydrogenase deficiency.