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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 Question

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

Our Answer

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My child, who is under 6 months old, has pyruvate kinase deficiency.  What impact will this diagnosis have for her in the long term?

Pyruvate kinase deficiency can produce mild or severe hemolysis (red cell breakdown) and anemia. Problems may first appear in the newborn as prolonged jaundice and anemia. Red blood cell transfusion may be necessary if the hemoglobin value falls signficantly. This tends to occur in early childhood or times of physiologic stress such as infections or pregnancy.  Splenectomy may be needed in those who have more severe anemia.    Older children may be pale (due to anemia), have intermittent episodes of jaundice and splenomegaly. Mild cases may escape detection until adulthood.[1]

People who have mild to moderate forms of pyruvate kinase deficiency tend to do very well long term.  People with more severe forms of the disease are mostly symptomatic during early childhood.  Following early childhood, the condition is much better tolerated.[2]

 

Last updated: 5/20/2008

How might pyruvate kinase deficiency be treated?

Mild cases require no treatment. People with severe anemia may need blood transfusions.  In newborns with dangerous levels of jaundice, a health care provider may recommend an exchange transfusion. Surgical removal of the spleen (splenectomy) may also be necessary to help reduce the destruction of red blood cells. However, this does not help in all cases. With small children, this is delayed as long as possible to allow the immune system to mature. Other treatment is symptomatic and supportive. Someone who had a splenectomy should receive the pneumococcal vaccine at recommended intervals. They also should receive preventive antibiotics until age 5.[3][1] 

An article from eMedicine Journal provides additional information on treatment for pyruvate kinase deficiency at the following link. You may need to register to view the article, but registration is free.
http://emedicine.medscape.com/article/125096-treatment#showall
Last updated: 7/18/2011

How is pyruvate kinase deficiency inherited?

Pyruvate kinase deficiency is inherited in an autosomal recessive fashion, which means that a child must inherit a gene with a disease-causing mutation from both parents to develop the disorder. The gene that causes pyruvate kinase deficiency is called the PKLR gene that is located on chromosome 1q21.[4]  Although the inheritance is clinically autosomal recessive, most affected individuals are compound heterozygous for two different mutant alleles. It is estimated that approximatly 1 in 100 people carry one copy of a disease-causing mutation in the PKLR gene.[2]  Carriers of one non-working PKLR gene usually have moderatly reduced levels of pyruvate kinase activity but do not develop clinical symptoms. It is possible that carriers of a mutant pyruvate kinase gene may have a protective advantage against malaria in areas where the disease is endemic.[5]
Last updated: 7/18/2011

How many people have pyruvate kinase deficiency?

It is estimated that 1 in 20,000 people world-wide have pyruvate kinase deficiency.  A particularly high frequecy exists among the Pennsylvania Amish, in whom the disorder can be traced to a single immigrant couple.[6] 
Last updated: 1/14/2009

References