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Biochemistry · Pentose phosphate pathway
Sample itemAn 8-year-old boy develops dark urine and jaundice two days after eating fava beans. Blood film shows Heinz bodies and bite cells. What is the primary biochemical defect in his red cells?
Original practice item, not a recalled exam question. Nothing here is recorded.
The answer and the reasoning
D. Inadequate NADPH, so oxidised glutathione cannot be reduced
In G6PD deficiency the pentose phosphate pathway cannot generate enough NADPH. Red cells then cannot regenerate reduced glutathione, so oxidants such as fava beans or primaquine denature haemoglobin into Heinz bodies and cause haemolysis.
Option by option
A. Impaired haem synthesis
Impaired haem synthesis causes sideroblastic anaemia or porphyria and not haemolysis after oxidant exposure.
B. Reduced synthesis of beta-globin chains
Reduced beta-globin synthesis is beta thalassaemia, with microcytic anaemia and no oxidant-triggered attacks.
C. Inadequate ATP from glycolysis
ATP failure from glycolytic enzyme deficiency, as in pyruvate kinase deficiency, causes chronic haemolysis without oxidant triggers.
D. Inadequate NADPH, so oxidised glutathione cannot be reduced (correct)
Correct. Low NADPH leaves red cells unprotected against oxidative stress.
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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