Metabolism USMLE Step 1 Practice Question
A 7 year old boy is evaluated for chronic jaundice and fatigue. He has scleral icterus and splenomegaly. Laboratory studies show hemoglobin 8.8 g per dL, elevated indirect bilirubin, elevated lactate dehydrogenase, and increased reticulocyte count. Peripheral smear demonstrates echinocytes. Which of the following enzyme deficiencies most likely underlies this disorder?
Answer choices
- AGlucose 6 phosphatase
- BOrnithine transcarbamylase
- CHexosaminidase A
- DGlucose 6 phosphate dehydrogenase
- EPyruvate kinaseCorrect answer
- FGlucokinase
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