Pyruvate Kinase Deficiency of Red Cells

An autosomal recessive metabolic disorder caused by mutations in the PKLR gene (pyruvate kinase). It is the most common cause of hereditary nonspherocytic hemolytic anemia and is also the most frequent enzyme abnormality of GLYCOLYSIS. OMIM: 266200

Also Known As:

PK Deficiency; Pyruvate Kinase Deficiency; Pyruvate Kinase Deficiency of Erythrocyte

Hemic and Lymphatic Diseases: 6
- Hematologic Diseases: 3366
  - Anemia: 38331
    - Hemolytic Anemia: 6695
      - Congenital Hemolytic Anemia: 288
        Congenital Nonspherocytic Hemolytic Anemia: 42
        Pyruvate Kinase Deficiency of Red Cells: 360
Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 933
- Inborn Genetic Diseases: 11939
  - Inborn Errors Metabolism: 1162
    - Inborn Errors Carbohydrate Metabolism
      - Inborn Errors Pyruvate Metabolism
        Pyruvate Kinase Deficiency of Red Cells: 360
  - Congenital Hemolytic Anemia: 288
    - Congenital Nonspherocytic Hemolytic Anemia: 42
      - Pyruvate Kinase Deficiency of Red Cells: 360
Enzymes and Coenzymes: 1
- Enzymes: 152586
  - Transferases: 6589
    - Phosphotransferases: 42769
      - Phosphotransferases (Alcohol Group Acceptor)
        Pyruvate Kinase: 1810
        Pyruvate Kinase Deficiency of Red Cells: 360
Nutritional and Metabolic Diseases: 15
- Metabolic Diseases: 10142
  - Inborn Errors Metabolism: 1162
    - Inborn Errors Carbohydrate Metabolism
      - Inborn Errors Pyruvate Metabolism
        Pyruvate Kinase Deficiency of Red Cells: 360

Susan Bodie Selected Research

Susan Bodie Research Topics

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Therapy/Procedure