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.

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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:

AG-348 enhances pyruvate kinase activity in red blood cells from patients with pyruvate kinase deficiency.
 

Author(s): Charles Kung, Jeff Hixon, Penelope A Kosinski, Giovanni Cianchetta, Gavin Histen, Yue Chen, Collin Hill, Stefan Gross, Yaguang Si, Kendall Johnson, Byron DeLaBarre, Zhiyong Luo, Zhiwei Gu, Gui Yao, Huachun Tang, Cheng Fang, Yingxia Xu, Xiaobing Lv, Scott Biller, Shin-San Michael Su, Hua Yang, Janeta Popovici-Muller, Francesco Salituro, Lee Silverman, Lenny Dang

Journal: Blood. 2017 Sep;130(11):1347-1356.

 

Pyruvate kinase (PK) deficiency is a rare genetic disease that causes chronic hemolytic anemia. There are currently no targeted therapies for PK deficiency. Here, we describe the identification and characterization of AG-348, an allosteric activator of PK that is currently in clinical ...

Last Updated: 31 Dec 1969

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The mouse Char10 locus regulates severity of pyruvate kinase deficiency and susceptibility to malaria.
 

Author(s): Aurélie Laroque, Gundula Min-Oo, Mifong Tam, Prem Ponka, Mary M Stevenson, Philippe Gros

Journal:

 

Pyruvate kinase (PKLR) deficiency protects mice and humans against blood-stage malaria. Although mouse strain AcB62 carries a malaria-protective PklrI90N genetic mutation, it is phenotypically susceptible to blood stage malaria induced by infection with Plasmodium chabaudi AS, suggesting ...

Last Updated: 31 Dec 1969

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Safe and Efficient Gene Therapy for Pyruvate Kinase Deficiency.
 

Author(s): Maria Garcia-Gomez, Andrea Calabria, Maria Garcia-Bravo, Fabrizio Benedicenti, Penelope Kosinski, Sergio López-Manzaneda, Collin Hill, María Del Mar Mañu-Pereira, Miguel A Martín, Israel Orman, Joan-LLuis Vives-Corrons, Charles Kung, Axel Schambach, Shengfang Jin, Juan A Bueren, Eugenio Montini, Susana Navarro, Jose C Segovia

Journal: Mol. Ther.. 2016 Aug;24(7):1187-98.

 

Pyruvate kinase deficiency (PKD) is a monogenic metabolic disease caused by mutations in the PKLR gene that leads to hemolytic anemia of variable symptomatology and that can be fatal during the neonatal period. PKD recessive inheritance trait and its curative treatment by allogeneic ...

Last Updated: 31 Dec 1969

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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: 31 Dec 1969

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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: 31 Dec 1969

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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: 31 Dec 1969

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Clinical Trial Information This information is provided by ClinicalTrials.gov

There are currently no open clinical trials for this condition.