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Other names people use for this condition
  • Pyruvate kinase deficiency of red cells
  • Pyruvate kinase deficiency of erythrocytes
  • PK deficiency
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Pyruvate kinase deficiency
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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? 



  • What is pyruvate kinase deficiency? (Back to Top)

  • Pyruvate kinase deficiency is a condition caused by low levels of an enzyme called pyruvate kinase, which is used by red blood cells. Without pyruvate kinase, red blood cells break down too easily, resulting in low levels of these cells (hemolytic anemia). [1] Pyruvate kinase deficiency is cause by a mutation or alteration in a gene called PKLR located on chromosome 1. [2]  Symptoms of pyruvate kinase deficiency develop if an individual receives two altered copies of the PKLR gene, one from each parent.  This is called autosomal recessive inheritance.  Pyruvate kinase deficiency may produce mild or severe hemolysis (red cell breakdown) and anemia. Problems may first appear in the newborn as prolonged jaundice and anemia. Older children may be pale (due to anemia), and have intermittent episodes of jaundice. Mild cases may escape detection until adulthood.[1]
  • Last Reviewed: 1/14/2009

  • What causes pyruvate kinase deficiency? (Back to Top)

  • Pyruvate kinase deficiency is passed down as an autosomal recessive trait. A child must get the defective gene from both parents to develop the disorder.[1] 

    More than 100 genetic defects of the PKLR gene have been detected. Most defects are missense mutations, but splicing mutations (mutations that occur at the point where introns are processed), insertions, and deletions also occur. Although inheritance is clinically autosomal recessive, most affected individuals are compound heterozygous for two different mutant alleles.[3]

    Medical conditions, such as acute leukemia, preleukemia, and refractory sideroblastic anemia, as well as complications from chemotherapy, can cause an acquired pyruvate kinase deficiency. This type is more common and milder than the hereditary type.[3]
  • Last Reviewed: 1/14/2009

  • Who can we contact to discuss our concerns regarding how our son became affected by pyruvate kinase deficiency when we do not appear to be carriers? (Back to Top)

  • Genetics professionals are qualified to address your concerns. Genetics professionals are a source of information for individuals and families regarding genetic diagnosis, natural history, treatment, mode of inheritance, and genetic risks to other family members. To find a genetics clinic near you, we recommend that you contact your primary doctor for a referral. Click here to learn more about genetic consultations.

    The following online resources can also help you find a genetics professional in your community:

      * GeneTests - A searchable directory of US and international genetics and prenatal diagnosis clinics. Go to the following link and click on 'Clinic Directory' to find a genetic service close to you.
    http://www.geneclinics.org/

      * ResourceLink - A database of genetics counseling services, searchable by location, name, institution, type of practice, or specialty. Hosted by the National Society of Genetic Counselors.
    http://www.nsgc.org/resourcelink.asp

      * Genetic Centers, Clinics, and Departments - A comprehensive resource list for genetic counseling, including links to genetic centers and clinics, associations, and university genetics departments. Hosted by the University of Kansas Medical Center.
    http://www.kumc.edu/gec/prof/genecntr.html


  • Last Reviewed: 12/30/2008


References  (Back)
  1. Chad Haldeman-Englert, MD . Pyruvate kinase deficiency. MedlinePlus Encyclopedia. 05/15/2008 Available at: http://www.nlm.nih.gov/medlineplus/ency/article/001197.htm. Accessed January 14, 2009.
  2. Zanella, A. et.al.. Pyruvate kinase deficiency: The genotype-phenotype association. Blood Reviews. 2007.
  3. Frye, Richard. Pyruvate Kinase Deficiency. eMedicine. 12/18/2008 Available at: http://www.emedicine.com/MED/topic1980.htm. Accessed 12/29/2008.


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