Genetic and Rare Diseases Information Center (GARD)


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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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]

References
  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.

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