Pyruvate kinase deficiency is a genetic condition resulting from a mutation in the gene coding for one of the enzymes of glycolysis, pyruvate kinase. It mostly affects red blood cells, and leads to irregular morphology of red blood cells and hemolytic anemia. Yet, pyruvate kinase is present in all cells where it catalyzes one step of glycolysis. Which of the following best explain why red blood cells are MOST affected in this disorder?
A) Defect of glycolysis enzyme leads to lower levels of ATP in red blood cells.
B) Red blood cells exclusively rely on glycolysis as their ATP source.
C) Red blood cells cannot produce ATP from beta oxidation of fatty acids.
D) All of the choices are correct.

Question

Quizplus · Accepted Answer

Red blood cells are uniquely affected by pyruvate kinase deficiency because they rely exclusively on glycolysis for ATP production, cannot perform beta oxidation of fatty acids due to the lack of mitochondria, and thus a defect in glycolysis significantly reduces their ATP levels, impacting their function and survival.

Pyruvate Kinase Deficiency Is a Genetic Condition Resulting from a Mutation