All of the following are true about pyruvate dehydrogenase deficiency, EXCEPT: (A) Mutation in the E1 component of PDH is the most common, (B) Decrease in blood lactate, (C) Ketogenic diet rich in leucine is given as a treatment, (D) Rise in pyruvate
Answer is B. PDH complex deficiency results in : Rise in pyruvate Upregulating other reactions of pyruvate metabolism (reduction to lactate by NADH-requiring LDH leading to lactic acidosis.) The most common form of PDH complex deficiency is caused by mutations to E1.