Pyruvate kinase deficiency

Summary of Pyruvate kinase deficiency
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.

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Pathology

Hematological system

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

Assessments
Pyruvate kinase deficiency

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High Yield Notes
13 pages
Flashcards

Pyruvate kinase deficiency

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The genetic inheritance of pyruvate kinase deficiency commonly is .

Questions

USMLE® Step 1 style questions USMLE

4 questions

USMLE® Step 2 style questions USMLE

3 questions
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A 6-day-old boy born to Amish parents has had low hemoglobin levels since day 1 of life. Physical exam reveals moderate hepatosplenomegaly and some skin ulcers. He is diagnosed with pyruvate kinase deficiency. Which of the following is a finding you expect to find on his labs?

External References