Pyruvate kinase deficiency
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Pyruvate kinase deficiency
Pathology
Anemias
Autoimmune hemolytic anemia
Glucose-6-phosphate dehydrogenase (G6PD) deficiency
Hemolytic disease of the newborn
Hereditary spherocytosis
Paroxysmal nocturnal hemoglobinuria
Pyruvate kinase deficiency
Sickle cell disease (NORD)
Fanconi anemia
Folate (Vitamin B9) deficiency
Megaloblastic anemia
Vitamin B12 deficiency
Alpha-thalassemia
Anemia of chronic disease
Beta-thalassemia
Iron deficiency anemia
Lead poisoning
Sideroblastic anemia
Anemia of chronic disease
Aplastic anemia
Diamond-Blackfan anemia
Fanconi anemia
Dysplastic and proliferative disorders
Langerhans cell histiocytosis
Mastocytosis (NORD)
Essential thrombocythemia (NORD)
Myelodysplastic syndromes
Myelofibrosis (NORD)
Polycythemia vera (NORD)
Leukemoid reaction
Leukemoid reaction
Mixed platelet and coagulation disorders
Disseminated intravascular coagulation
Heparin-induced thrombocytopenia
Von Willebrand disease
Thrombosis syndromes (hypercoagulability)
Antiphospholipid syndrome
Antithrombin III deficiency
Factor V Leiden
Protein C deficiency
Protein S deficiency
Hematological system pathology review
Coagulation disorders: Pathology review
Extrinsic hemolytic normocytic anemia: Pathology review
Heme synthesis disorders: Pathology review
Intrinsic hemolytic normocytic anemia: Pathology review
Leukemias: Pathology review
Lymphomas: Pathology review
Macrocytic anemia: Pathology review
Microcytic anemia: Pathology review
Mixed platelet and coagulation disorders: Pathology review
Myeloproliferative disorders: Pathology review
Non-hemolytic normocytic anemia: Pathology review
Plasma cell disorders: Pathology review
Platelet disorders: Pathology review
Thrombosis syndromes (hypercoagulability): Pathology review
Assessments
Pyruvate kinase deficiency
Flashcards
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USMLE® Step 1 questions
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High Yield Notes
13 pages
Flashcards
Pyruvate kinase deficiency
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Questions
USMLE® Step 1 style questions USMLE
of complete
Sucrose hemolysis test is positive. The patient's condition is most likely attributed to which of the following?
External References
First Aid
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2016
Hemolytic anemia p. 429
pyruvate kinase deficiency and p. 417
Pyruvate kinase deficiency p. 417
in anemia taxonomy p. 425
echinocytes in p. 422
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.
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