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  1. Pyruvate Kinase Deficiency: Symptoms, Causes & Treatment

    Pyruvate kinase deficiency (PK deficiency) is a rare genetic disorder that causes your red blood cells to break down faster than normal. It can lead to hemolytic anemia and cause symptoms like fatigue, …

  2. Pyruvate kinase deficiency - Wikipedia

    Pyruvate kinase deficiency is due to a mutation in the PKLR gene. There are four pyruvate kinase isoenzymes, two of which are encoded by the PKLR gene (isoenzymes L and R, which are used in …

  3. Management of pyruvate kinase deficiency in children and adults

    Sep 10, 2020 · Pyruvate kinase deficiency (PKD) is an autosomal-recessive enzyme defect of the glycolytic pathway that causes congenital nonspherocytic hemolytic anemia.

  4. Pyruvate kinase deficiency: MedlinePlus Genetics

    Pyruvate kinase deficiency is an inherited disorder that affects red blood cells, which carry oxygen to the body's tissues. Explore symptoms, inheritance, genetics of this condition.

  5. Pyruvate kinase deficiency of red cells | About the Disease | GARD

    Without pyruvate kinase, red blood cells break down too easily, resulting in low levels of these cells (hemolytic anemia). The signs and symptoms of the disease may vary greatly from person to person.

  6. Pyruvate kinase deficiency - UpToDate

    May 9, 2022 · Pyruvate kinase (PK) deficiency is an inherited (autosomal recessive) red blood cell (RBC) enzyme disorder that causes chronic hemolysis. It is the second most common RBC enzyme …

  7. Pyruvate Kinase Deficiency: Practice Essentials ... - Medscape

    Pyruvate kinase deficiency is one of the most common enzymatic defects of the erythrocyte. This disorder manifests clinically as a hemolytic anemia, with its clinical severity ranging from a...

  8. Pyruvate Kinase Deficiency - Metabolic Support UK

    Pyruvate kinase deficiency (PKD) is a genetic blood disorder characterized by low levels of an enzyme called pyruvate kinase, which is used by red blood cells. Without pyruvate kinase, red blood cells …

  9. Pyruvate Kinase Deficiency (PK) | Boston Children's Hospital

    Pyruvate kinase (PK) deficiency is a rare, genetic, lifelong condition that affects red blood cells. Symptoms can be vary greatly. How it affects one person can be significantly different from how it …

  10. Pyruvate Kinase Deficiency - Symptoms, Causes, Treatment | NORD

    Aug 22, 2023 · Pyruvate kinase deficiency is a rare disorder that affects both males and females. The frequency of the disorder is unknown, although one estimate suggests that approximately 1 in 20,000 …