Pyruvate kinase deficiency
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Pyruvate kinase deficiency
NMBE hematoinmuno
NMBE hematoinmuno
Blood histology
Blood components
Erythropoietin
Blood groups and transfusions
Platelet plug formation (primary hemostasis)
Coagulation (secondary hemostasis)
Role of Vitamin K in coagulation
Clot retraction and fibrinolysis
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
Aplastic anemia
Fanconi anemia
Megaloblastic anemia
Folate (Vitamin B9) deficiency
Vitamin B12 deficiency
Diamond-Blackfan anemia
Acute intermittent porphyria
Porphyria cutanea tarda
Hemophilia
Vitamin K deficiency
Bernard-Soulier syndrome
Glanzmann's thrombasthenia
Hemolytic-uremic syndrome
Immune thrombocytopenia
Thrombotic thrombocytopenic purpura
Von Willebrand disease
Disseminated intravascular coagulation
Heparin-induced thrombocytopenia
Antithrombin III deficiency
Factor V Leiden
Protein C deficiency
Protein S deficiency
Antiphospholipid syndrome
Hodgkin lymphoma
Non-Hodgkin lymphoma
Chronic leukemia
Acute leukemia
Myelodysplastic syndromes
Polycythemia vera (NORD)
Myelofibrosis (NORD)
Essential thrombocythemia (NORD)
Langerhans cell histiocytosis
Multiple myeloma
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
Anticoagulants: Heparin
Anticoagulants: Warfarin
Anticoagulants: Direct factor inhibitors
Ribonucleotide reductase inhibitors
Topoisomerase inhibitors
Platinum containing medications
Anti-tumor antibiotics
Microtubule inhibitors
DNA alkylating medications
Monoclonal antibodies
Antimetabolites for cancer treatment
Thymus histology
Spleen histology
Lymph node histology
Cytokines
Innate immune system
Complement system
T-cell development
B-cell development
MHC class I and MHC class II molecules
T-cell activation
B-cell activation and differentiation
Antibody classes
Type I hypersensitivity
Type II hypersensitivity
Type III hypersensitivity
Type IV hypersensitivity
Graft-versus-host disease
X-linked agammaglobulinemia
Selective immunoglobulin A deficiency
Common variable immunodeficiency
IgG subclass deficiency
Hyperimmunoglobulin E syndrome
Thymic aplasia
DiGeorge syndrome
Severe combined immunodeficiency
Adenosine deaminase deficiency
Ataxia-telangiectasia
Hyper IgM syndrome
Wiskott-Aldrich syndrome
Leukocyte adhesion deficiency
Chediak-Higashi syndrome
Chronic granulomatous disease
Complement deficiency
Hereditary angioedema
Asplenia
Mycobacterium tuberculosis (Tuberculosis)
Anemia: Clinical
ELISA (Enzyme-linked immunosorbent assay)
HIV and AIDS: Pathology review
HIV (AIDS)
Atopic dermatitis
Papulosquamous and inflammatory skin disorders: Pathology review
Bullous pemphigoid
Pemphigus vulgaris
Stevens-Johnson syndrome
Erythema multiforme
Antiplatelet medications
Immunodeficiencies: T-cell and B-cell disorders: Pathology review
Immunodeficiencies: Combined T-cell and B-cell disorders: Pathology review
Immunodeficiencies: Phagocyte and complement dysfunction: Pathology review
Assessments
Flashcards
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USMLE® Step 1 questions
0 / 1 complete
High Yield Notes
13 pages
Flashcards
Pyruvate kinase deficiency
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Questions
USMLE® Step 1 style questions USMLE
0 of 1 complete
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.