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Genetic and Rare Diseases Information Center (GARD)

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Pyruvate kinase deficiency

Other Names for this Disease
  • PK deficiency
  • Pyruvate kinase deficiency of erythrocytes
  • Pyruvate kinase deficiency of red cells
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Your Questions Answered

4 question(s) from the public on this disease have been answered. Submit a new question.
  • My first child has the gene responsible for pyruvate kinase deficiency. Are there ways to monitor for this condition prenatally? Where can we access genetic testing for pyruvate kinase deficiency?  Click here for answer

  • My granddaughter has been diagnosed with pyruvate kinase deficiency. I have many questions about this condition, including how many people may be affected and if it is more common in any particular population. Any information you could provide would be helpful. Click here for answer

  • My son was diagnosed with pyruvate kinase deficiency when he was a baby. My husband and I were tested and are negative for being carriers. Could you tell me what else could cause pyruvate kinase deficiency?  Click here for answer

  • My child, who is under 6 months old, has pyruvate kinase deficiency.  What impact will this diagnosis have for her in the future? Click here for answer