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Pyruvate kinase deficiency
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Hematological system

Pathology

Anemias
Iron deficiency anemia
Beta-thalassemia
Alpha-thalassemia
Sideroblastic anemia
Anemia of chronic disease
Lead poisoning
Hemolytic disease of the newborn
Glucose-6-phosphate dehydrogenase (G6PD) deficiency
Autoimmune hemolytic anemia
Pyruvate kinase deficiency
Paroxysmal nocturnal hemoglobinuria
Sickle cell disease (NORD)
Hereditary spherocytosis
Anemia of chronic disease
Aplastic anemia
Fanconi anemia
Megaloblastic anemia
Folate (Vitamin B9) deficiency
Vitamin B12 deficiency
Fanconi anemia
Diamond-Blackfan anemia
Heme synthesis disorders
Acute intermittent porphyria
Porphyria cutanea tarda
Lead poisoning
Coagulation disorders
Hemophilia
Vitamin K deficiency
Platelet disorders
Bernard-Soulier syndrome
Glanzmann's thrombasthenia
Hemolytic-uremic syndrome
Immune thrombocytopenic purpura
Thrombotic thrombocytopenic purpura (NORD)
Mixed platelet and coagulation disorders
Von Willebrand disease
Disseminated intravascular coagulation
Heparin-induced thrombocytopenia
Thrombosis syndromes (hypercoagulability)
Antithrombin III deficiency
Factor V Leiden
Protein C deficiency
Protein S deficiency
Antiphospholipid syndrome
Lymphomas
Hodgkin lymphoma
Non-Hodgkin lymphoma
Leukemias
Chronic leukemia
Acute leukemia
Leukemoid reaction
Leukemoid reaction
Dysplastic and proliferative disorders
Myelodysplastic syndromes
Polycythemia vera (NORD)
Myelofibrosis (NORD)
Essential thrombocythemia (NORD)
Langerhans cell histiocytosis
Mastocytosis (NORD)
Plasma cell dyscrasias
Multiple myeloma
Monoclonal gammopathy of undetermined significance
Waldenstrom macroglobulinemia
Hematological system pathology review
Microcytic anemia: Pathology review
Non-hemolytic normocytic anemia: Pathology review
Intrinsic hemolytic normocytic anemia: Pathology review
Extrinsic hemolytic normocytic anemia: Pathology review
Macrocytic anemia: Pathology review
Heme synthesis disorders: Pathology review
Coagulation disorders: Pathology review
Platelet disorders: Pathology review
Mixed platelet and coagulation disorders: Pathology review
Thrombosis syndromes (hypercoagulability): Pathology review
Lymphomas: Pathology review
Leukemias: Pathology review
Plasma cell disorders: Pathology review
Myeloproliferative disorders: Pathology review

Assessments
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
Preview

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?

Memory Anchors and Partner Content
Pyruvate Kinase Deficiency
Picmonic
External References
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.