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Results 1 - 10 of 12 for Pyruvate kinase deficiency
  1. Genetics Home Reference: Pyruvate kinase deficiency From the National Institutes of Health (National Library of Medicine)  
    ... PubMed Recent literature OMIM Genetic disorder catalog Conditions > Pyruvate kinase deficiency On this page: Description Genetic changes Inheritance Diagnosis ...
  2. Pyruvate kinase deficiency is an inherited lack of the enzyme pyruvate kinase, which is used by red blood cells. ... Pyruvate kinase deficiency is passed down as an autosomal recessive trait. This means that a child must receive the ...
  3. Types of Hemolytic Anemia From the National Institutes of Health (National Heart, Lung, and Blood Institute)  
    ... is more common among African Americans than Caucasians. Pyruvate Kinase Deficiency In this condition, the body is missing an enzyme called pyruvate (PI-ru-vate) kinase. Not having enough of ...
  4. Your Guide to Anemia From the National Institutes of Health (National Heart, Lung, and Blood Institute) - PDF  
    ... Hereditary elliptocytosis Glucose-6-phosphate dehydrogenase (G6PD) deficiency Pyruvate kinase deficiency 7 A n e m i a Examples ... States require G6PD deficiency screening for newborn babies. Pyruvate kinase deficiency l l The RBCs are missing an enzyme ...
  5. Anemia (National Library of Medicine)  
    If you have anemia, your blood does not carry enough oxygen to the rest of your body. The most common cause of anemia is not having enough iron. Your body ...
  6. ... condition called hemolytic anemia . This test helps diagnose pyruvate kinase deficiency (PKD) . ... A low level of pyruvate kinase confirms pyruvate kinase deficiency.
  7. Genetics Home Reference: Anemia From the National Institutes of Health (National Library of Medicine)  
    ... type IV paroxysmal nocturnal hemoglobinuria phosphoglycerate kinase deficiency pyruvate kinase deficiency REN-related kidney disease sickle cell disease thiamine- ...
  8. Mitochondrial Myopathies (Muscular Dystrophy Association) - PDF  
    ... much today. Blood enzyme test 1. Lactate and pyruvate levels 2. Serum creatine kinase 1. If elevated, may indicate deficiency in electron transport chain; abnormal ratios of the ...
  9. ... Health Professionals What glossary definitions help with understanding pyruvate dehydrogenase ... kinase ; lactic acid ; lactic acidosis ; molecule ; motor ; muscle tone ; ...
  10. Genetic Brain Disorders (National Library of Medicine)  
    A genetic brain disorder is caused by a variation or a mutation in a gene. A variation is a different form of a gene. A mutation is a change in a gene. ...
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