Pyruvate dehydrogenase deficiency is a genetic disease most commonly linked to a mutation in the a -subunit of the mitochondrial

Question

Pyruvate dehydrogenase deficiency is a genetic disease most commonly linked to a mutation in the a -subunit of the mitochondrial enzyme that causes the enzyme to cease functioning. As a result of the mutation, affected individuals build up dangerous amounts of lactic acid. Which of the following best explains the buildup of lactic acid in individuals with the mutation?

a. Cells use lactic acid to shunt electrons from pyruvate to the electron transport chain in the
mitochondria.
b. Cells undergo glycolysis because there is a buildup of pyruvate in affected individuals.
c. Cells cannot transport pyruvate to the mitochondria in the absence of pyruvate dehydrogenase
activity, so the pyruvate is broken down to lactic acid and ethanol.
d. Cells undergo fermentation because pyruvate cannot be metabolized to proceed into the Krebs
cycle.

Kunduz · Accepted Answer

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