Pyruvate kinase deficiency

What causes pyruvate kinase deficiency?

In most cases, pyruvate kinase deficiency is caused by mutations in the PKLR gene. More than 100 different mutation in the PKLR gene have been detected. Medical conditions, such as acute leukemia, preleukemia (myelodysplastic syndrome), 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.

Last updated on 05-01-20

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 on 05-01-20

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. 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. 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.

Last updated on 05-01-20

What is the prognosis for individuals with pyruvate kinase deficiency?

The prognosis varies. Some people may have few or no symtpoms, while others have severe symtpoms. 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. Some people may experience complications such as gallstones and stroke. Severe pneumococcal disease is a possible complication after splenectomy.

Last updated on 05-01-20

How common is 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.

Last updated on 05-01-20

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.

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.

Last updated on 05-01-20

Selected Full-Text Journal Articles

Pyruvate Kinase Deficiency article

Durand PM, Coetzer TL. Pyruvate kinase deficiency protects against malaria in humans. Haematologica. 2008 Jun;93(6):939-40. Epub 2008 May 6.

Last updated on 04-27-20

Name: European Network for Rare and Congenital Anaemias (ENERCA) University of Barcelona Red Cell Pathology Unit
C/Villarroel, 170 - 08036 Barcelona
Phone: (34) 93 451 5950 Fax : (34) 93 227 1764 Email: Url:
Name: Pyruvate Kinase Deficiency: Understanding and living with PKD Email: Url:

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