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Biochemistry · Glycolysis: pyruvate kinase deficiency
Sample itemA child has chronic non-spherocytic haemolytic anaemia, splenomegaly and a negative Coombs test. Red cell pyruvate kinase activity is low. Which finding is expected in these red cells?
Original practice item, not a recalled exam question. Nothing here is recorded.
The answer and the reasoning
D. Raised 2,3-bisphosphoglycerate with a rightward shift of the oxygen dissociation curve
Mature red cells depend on glycolysis for ATP. When pyruvate kinase is deficient, ATP falls, cells become rigid and are cleared by the spleen, while upstream intermediates including 2,3-bisphosphoglycerate accumulate. The raised 2,3-BPG shifts the curve to the right, so patients tolerate anaemia better than expected.
Option by option
A. Reduced NADPH with Heinz bodies as the main defect
Low NADPH with Heinz bodies characterises G6PD deficiency, a pentose phosphate pathway defect.
B. Leftward shift of the oxygen dissociation curve
A left shift would impair unloading, and the accumulating 2,3-BPG causes the opposite.
C. Raised ATP content with increased membrane deformability
ATP is low in pyruvate kinase deficiency, so cells are rigid and not deformable.
D. Raised 2,3-bisphosphoglycerate with a rightward shift of the oxygen dissociation curve (correct)
Proximal accumulation of 2,3-BPG shifts the curve right and improves oxygen unloading.
Source note: Original NextPrep sample item — pending expert review. This item is original practice material awaiting independent expert review, so confirm important facts in a standard textbook.
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