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 49 free, full-text research articles on human participants. First 3 results:

Generation of a High Number of Healthy Erythroid Cells from Gene-Edited Pyruvate Kinase Deficiency Patient-Specific Induced Pluripotent Stem Cells.
 

Author(s): Zita Garate, Oscar Quintana-Bustamante, Ana M Crane, Emmanuel Olivier, Laurent Poirot, Roman Galetto, Penelope Kosinski, Collin Hill, Charles Kung, Xabi Agirre, Israel Orman, Laura Cerrato, Omaira Alberquilla, Fatima Rodriguez-Fornes, Noemi Fusaki, Felix Garcia-Sanchez, Tabita M Maia, Maria L Ribeiro, Julian Sevilla, Felipe Prosper, Shengfang Jin, Joanne Mountford, Guillermo Guenechea, Agnes Gouble, Juan A Bueren, Brian R Davis, Jose C Segovia

Journal: Stem Cell Reports. 2015 Dec;5(6):1053-66.

 

Pyruvate kinase deficiency (PKD) is a rare erythroid metabolic disease caused by mutations in the PKLR gene. Erythrocytes from PKD patients show an energetic imbalance causing chronic non-spherocytic hemolytic anemia, as pyruvate kinase defects impair ATP production in erythrocytes. ...

Last Updated: 15 Dec 2015

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Cholestasis and Hepatic Failure in a Neonate: A Case Report of Severe Pyruvate Kinase Deficiency.
 

Author(s): François Olivier, Anna Wieckowska, Bruno Piedboeuf, Fernando Alvarez

Journal: Pediatrics. 2015 Nov;136(5):e1366-8.

 

Unexpected severe cholestasis is part of the presentation in some neonates with hemolytic anemia but is usually self-resolving. Here we report the case of a neonate with pyruvate kinase deficiency (PKD) who presented severe hemolytic anemia at birth, characterized by a rapidly progressive ...

Last Updated: 3 Nov 2015

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Pyruvate kinase deficiency and severe congenital hemolytic anemia in a double heterozygous patient with paternal transmission of an early germ-line de novo mutation.
 

Author(s): María Del Mar Mañú-Pereira, Eva Gonzalez-Roca, Wouter W van Solinge, Esther Llaudet-Planas, Julián Sevilla, Laura Montllor, Anna Mensa-Vilaro, Hans Kristian Ploos van Amstel, Richard van Wijk, JoanLluis Vives-Corrons

Journal: Am. J. Hematol.. 2015 Dec;90(12):E217-9.

 

Last Updated: 15 Jan 2016

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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 3 free, full-text review articles on human participants. First 3 results:

Erythrocyte pyruvate kinase deficiency: 2015 status report.
 

Author(s): Rachael F Grace, Alberto Zanella, Ellis J Neufeld, D Holmes Morton, Stefan Eber, Hassan Yaish, Bertil Glader

Journal: Am. J. Hematol.. 2015 Sep;90(9):825-30.

 

Over the last several decades, our understanding of the genetic variation, pathophysiology, and complications of the hemolytic anemia associated with red cell pyruvate kinase deficiency (PKD) has expanded. Nonetheless, there remain significant gaps in our knowledge with regard to ...

Last Updated: 21 Aug 2015

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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: 25 Jul 2016

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