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Pyruvate kinase deficiency

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Hematological system

Pathology

Anemias
Heme synthesis disorders
Coagulation disorders
Platelet disorders
Mixed platelet and coagulation disorders
Thrombosis syndromes (hypercoagulability)
Lymphomas
Leukemias
Leukemoid reaction
Dysplastic and proliferative disorders
Plasma cell dyscrasias
Hematological system pathology review

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Pyruvate kinase deficiency

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High Yield Notes
13 pages
Flashcards

Pyruvate kinase deficiency

5 flashcards
Questions

USMLE® Step 1 style questions USMLE

1 questions
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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?

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Summary
Pyruvate kinase deficiency is an inherited metabolic disorder of the enzyme pyruvate kinase which affects the survival of red blood cells. Both autosomal dominant and recessive inheritance have been observed with the disorder but classically, and more commonly, the inheritance is autosomal recessive. Pyruvate kinase deficiency is the second most common cause of enzyme-deficient hemolytic anemia, following glucose-6-phosphate dehydrogenase deficiency.