Pyruvate kinase deficiency

Common Name(s)

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). Signs and symptoms include jaundice, enlargement of the spleen, and mild or severe hemolysis (red cell breakdown), leading to 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.  Pyruvate kinase deficiency is caused by a mutation in the PKLR gene and is inherited in an autosomal recessive fashion.  
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Pyruvate kinase deficiency" for support, advocacy or research.

There are currently no organizations listed in Disease InfoSearch that support this condition. Create a listing.

 

 

General Support Organizations

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Pyruvate kinase deficiency" returned 37 free, full-text research articles on human participants. First 3 results:

Pyruvate kinase deficiency in sub-Saharan Africa: identification of a highly frequent missense mutation (G829A;Glu277Lys) and association with malaria.
 

Author(s): Patrícia Machado, Licínio Manco, Cláudia Gomes, Cristina Mendes, Natércia Fernandes, Graça Salomé, Luis Sitoe, Sérgio Chibute, José Langa, Letícia Ribeiro, Juliana Miranda, Jorge Cano, João Pinto, António Amorim, Virgílio E do Rosário, Ana Paula Arez

Journal: PLoS ONE. 2012 ;7(10):e47071.

 

Pyruvate kinase (PK) deficiency, causing hemolytic anemia, has been associated to malaria protection and its prevalence in sub-Saharan Africa is not known so far. This work shows the results of a study undertaken to determine PK deficiency occurrence in some sub-Saharan African countries, ...

Last Updated: 19 Oct 2012

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Stem cell selection in vivo using foamy vectors cures canine pyruvate kinase deficiency.
 

Author(s): Grant D Trobridge, Brian C Beard, Robert A Wu, Christina Ironside, Punam Malik, Hans-Peter Kiem

Journal: PLoS ONE. 2012 ;7(9):e45173.

 

Hematopoietic stem cell (HSC) gene therapy has cured immunodeficiencies including X-linked severe combined immunodeficiency (SCID-X1) and adenine deaminase deficiency (ADA). For these immunodeficiencies corrected cells have a selective advantage in vivo, and low numbers of gene-modified ...

Last Updated: 2 Oct 2012

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Rescue of pyruvate kinase deficiency in mice by gene therapy using the human isoenzyme.
 

Author(s): Nestor W Meza, Maria E Alonso-Ferrero, Susana Navarro, Oscar Quintana-Bustamante, Antonio Valeri, Maria Garcia-Gomez, Juan A Bueren, Jose M Bautista, Jose C Segovia

Journal: Mol. Ther.. 2009 Dec;17(12):2000-9.

 

Human erythrocyte R-type pyruvate kinase deficiency (PKD) is a disorder caused by mutations in the PKLR gene that produces chronic nonspherocytic hemolytic anemia. Besides periodic blood transfusion and splenectomy, severe cases require bone marrow (BM) transplant, which makes this ...

Last Updated: 30 Nov 2009

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Pyruvate kinase deficiency" returned 2 free, full-text review articles on human participants. First 3 results:

Pyruvate kinase deficiency.
 

Author(s): Alberto Zanella, Paola Bianchi, Elisa Fermo

Journal: Haematologica. 2007 Jun;92(6):721-3.

 

Last Updated: 6 Jun 2007

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Paravertebral extramedullary hematopoiesis due to pyruvate kinase deficiency.
 

Author(s): Esther Plensa, Gustavo Tapia, Jordi Juncà, Ricard Pèrez, Eva Castellà, Salvador Martì

Journal: Haematologica. 2005 Nov;90 Suppl():ECR32.

 

Last Updated: 3 Nov 2005

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Symptoms, Diagnosis, and Treatment

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Clinical Trial Information This information is provided by ClinicalTrials.gov

Pyruvate Kinase Deficiency Natural History Study
 

Status: Recruiting

Condition Summary: Pyruvate Kinase Deficiency; Congenital Non-Spherocytic Hemolytic Anemia

 

Last Updated: 31 Jan 2014

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