Pyruvate kinase deficiency
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Flashcards
Pyruvate kinase deficiency
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Questions
USMLE® Step 1 style questions USMLE
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A 45-year-old man comes to the primary care office because of a three-month history of progressive fatigue, abdominal pain, and darker-than-normal urine, especially in the morning. Temperature is 37°C (98.6°F), pulse is 80/min, respirations are 12/min, and blood pressure is 128/82 mmHg. Physical examination is within normal limits. Laboratory tests are obtained, and the results are shown below.
Sucrose hemolysis test is positive. The patient's condition is most likely attributed to which of the following?
Sucrose hemolysis test is positive. The patient's condition is most likely attributed to which of the following?
External References
First Aid
2024
2023
2022
2021
Hemolytic anemia p. 427
pyruvate kinase deficiency and p. 415
Pyruvate kinase deficiency p. 415
in anemia taxonomy p. 423
echinocytes in p. NaN
Summary
Pyruvate kinase deficiency is an inherited disorder caused by a mutation in the gene that codes for the enzyme pyruvate kinase. This enzyme is responsible for catalyzing the breakdown of glucose to form pyruvate. Without functional pyruvate kinase, the body is unable to properly convert glucose into energy, which affects the survival of red blood cells and causes them to break down (hemolysis). Symptoms include anemia, fatigue, splenomegaly, and jaundice. Treatment options include blood transfusions, splenectomy for massive splenomegaly, or allogeneic bone marrow transplantation.