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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 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? 

Our Answer

We have identified the following information that we hope you find helpful. If you still have questions, please contact us.

What is pyruvate kinase deficiency?

Pyruvate kinase deficiency is a hereditary blood disorder characterized 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] Signs and symptoms include jaundice, enlargement of the spleen, and mild or severe hemolysis (red cell breakdown), leading to anemia.[2] 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] Pyruvate kinase deficiency is caused by a mutation in the PKLR gene and is inherited in an autosomal recessive fashion.[1][3] 
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.[3]  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.[4]  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

Are there ways to monitor for pyruvate kinase deficiency during the prenetal period?

While pyruvate kinase deficiency used to be monitored through observation of symptoms on ultrasound, the movement towards genetic testing has allowed for prenatal diagnosis using DNA. This is a more accurate way to determine if a fetus is affected, as only severe cases typically appear with identifiable signs (i.e. hepatosplenomegaly,hydrops fetalis).[6][7][8]

Prenatal diagnosis using DNA (via chorionic villus sampling (CVS) or amniocentesis) testing is possible if the defects in the parents or an affected sibling are known. Prenatal enzymatic testing is not optimal, because a large amount of fetal blood is required, and the test has a high rate of false-negative results.[6] Prompt fetal diagnosis allows for aggressive obstetric management and appropriate neonatal care which may allow a more favorable neonatal outcome.[7][8]
Last updated: 7/18/2011

Is genetic testing available for pyruvate kinase deficiency?

Yes. GeneTests lists laboratories offering clinical genetic testing for this condition. Clinical genetic tests are ordered to help diagnose an affected person or other family members and to aid in decisions regarding medical care or reproductive issues. We recommend that you talk to your health care provider or a genetic professional to learn more about your testing options.
Last updated: 7/18/2011

How can I find a genetics professional in my area?

Genetics clinics are a source of information for individuals and families regarding genetic conditions, treatment, inheritance, and genetic risks to other family members. More information about genetic consultations is available from Genetics Home Reference. To find a genetics clinic, we recommend that you contact your primary healthcare provider for a referral.

The following online resources can help you find a genetics professional in your community:
Last updated: 10/18/2013