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Reduced red cell pyruvate kinase level

MedGen UID:
1369680
•Concept ID:
C4476595
•
Finding
Synonym: Reduced red cell pyruvate kinase activity
 
HPO: HP:0025109

Definition

Decrease in the level of pyruvate kinase (PK) within erythrocytes. PK catalyzes the reaction [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVReduced red cell pyruvate kinase level

Conditions with this feature

Pyruvate kinase deficiency of red cells
MedGen UID:
473069
•Concept ID:
C0340968
•
Disease or Syndrome
Red cell pyruvate kinase deficiency is the most common cause of hereditary nonspherocytic hemolytic anemia. PK deficiency is also the most frequent enzyme abnormality of the glycolytic pathway (Zanella et al., 2005).
See: Condition Record
Pyruvate kinase deficiency of red cells

Professional guidelines

PubMed

Targeting mitochondrial bioenergetics by combination treatment with imatinib and dichloroacetate in human erythroleukemic K‑562 and colorectal HCT‑116 cancer cells.
Kakafika MG, Lyta AA, Gavriilidis GI, Tsiftsoglou SA, Miliotou AN, Pappas IS, Vizirianakis IS, Papadopoulou LC, Tsiftsoglou AS
Int J Oncol 2024 Apr;64(4) Epub 2024 Mar 1 doi: 10.3892/ijo.2024.5630. PMID: 38426621Free PMC Article
AG-348 (Mitapivat), an allosteric activator of red blood cell pyruvate kinase, increases enzymatic activity, protein stability, and ATP levels over a broad range of PKLR genotypes.
Rab MAE, Van Oirschot BA, Kosinski PA, Hixon J, Johnson K, Chubukov V, Dang L, Pasterkamp G, Van Straaten S, Van Solinge WW, Van Beers EJ, Kung C, Van Wijk R
Haematologica 2021 Jan 1;106(1):238-249. doi: 10.3324/haematol.2019.238865. [Epub ahead of print] PMID: 31974203Free PMC Article

Recent clinical studies

Etiology

Rujifang inhibits triple-negative breast cancer growth via the PI3K/AKT pathway.
Jia W, Lin X, Chen X, Li H, Zhang X, Zhang Y, Chen Y, Wang B, Chen X, Chen J, Tian H
J Ethnopharmacol 2024 Jun 12;327:118011. Epub 2024 Mar 10 doi: 10.1016/j.jep.2024.118011. PMID: 38467320
One-year safety and efficacy of mitapivat in sickle cell disease: follow-up results of a phase 2, open-label study.
van Dijk MJ, Rab MAE, van Oirschot BA, Bos J, Derichs C, Rijneveld AW, Cnossen MH, Nur E, Biemond BJ, Bartels M, Jans JJM, van Solinge WW, Schutgens REG, van Wijk R, van Beers EJ
Blood Adv 2023 Dec 26;7(24):7539-7550. doi: 10.1182/bloodadvances.2023011477. PMID: 37934880Free PMC Article
Congenital Hemolytic Anemias: Is There a Role for the Immune System?
Zaninoni A, Fermo E, Vercellati C, Marcello AP, Barcellini W, Bianchi P
Front Immunol 2020;11:1309. Epub 2020 Jun 23 doi: 10.3389/fimmu.2020.01309. PMID: 32655575Free PMC Article
Cardiac metabolism as a driver and therapeutic target of myocardial infarction.
Zuurbier CJ, Bertrand L, Beauloye CR, Andreadou I, Ruiz-Meana M, Jespersen NR, Kula-Alwar D, Prag HA, Eric Botker H, Dambrova M, Montessuit C, Kaambre T, Liepinsh E, Brookes PS, Krieg T
J Cell Mol Med 2020 Jun;24(11):5937-5954. Epub 2020 May 8 doi: 10.1111/jcmm.15180. PMID: 32384583Free PMC Article
Laboratory Approach to Hemolytic Anemia.
Jamwal M, Sharma P, Das R
Indian J Pediatr 2020 Jan;87(1):66-74. Epub 2019 Dec 10 doi: 10.1007/s12098-019-03119-8. PMID: 31823208

Diagnosis

Enzymatic Changes in Red Blood Cells of Diamond-Blackfan Anemia.
Utsugisawa T, Uchiyama T, Toki T, Shimojima-Yamamoto K, Ohga S, Ito E, Kanno H
Tohoku J Exp Med 2021 Sep;255(1):49-55. doi: 10.1620/tjem.255.49. PMID: 34526430
A pyruvate kinase deficiency child with novel PK-LR gene mutations was successfully cured by matched unrelated donor peripheral blood stem cell transplantation.
Zhan LP, Que LP, Wu ZZ, Liu DD, Wang KM, Xu HG, Fang JP, Huang K
Pediatr Transplant 2021 Nov;25(7):e14078. Epub 2021 Jul 13 doi: 10.1111/petr.14078. PMID: 34255916
Laboratory Approach to Hemolytic Anemia.
Jamwal M, Sharma P, Das R
Indian J Pediatr 2020 Jan;87(1):66-74. Epub 2019 Dec 10 doi: 10.1007/s12098-019-03119-8. PMID: 31823208
Rare hereditary red blood cell enzymopathies associated with hemolytic anemia - pathophysiology, clinical aspects, and laboratory diagnosis.
Koralkova P, van Solinge WW, van Wijk R
Int J Lab Hematol 2014 Jun;36(3):388-97. doi: 10.1111/ijlh.12223. PMID: 24750686
Red cell glucose-6-phosphate dehydrogenase status and pyruvate kinase activity in a Nigerian population.
May J, Meyer CG, Grossterlinden L, Ademowo OG, Mockenhaupt FP, Olumese PE, Falusi AG, Luzzatto L, Bienzle U
Trop Med Int Health 2000 Feb;5(2):119-23. doi: 10.1046/j.1365-3156.2000.00529.x. PMID: 10747271

Therapy

Rujifang inhibits triple-negative breast cancer growth via the PI3K/AKT pathway.
Jia W, Lin X, Chen X, Li H, Zhang X, Zhang Y, Chen Y, Wang B, Chen X, Chen J, Tian H
J Ethnopharmacol 2024 Jun 12;327:118011. Epub 2024 Mar 10 doi: 10.1016/j.jep.2024.118011. PMID: 38467320
Targeting mitochondrial bioenergetics by combination treatment with imatinib and dichloroacetate in human erythroleukemic K‑562 and colorectal HCT‑116 cancer cells.
Kakafika MG, Lyta AA, Gavriilidis GI, Tsiftsoglou SA, Miliotou AN, Pappas IS, Vizirianakis IS, Papadopoulou LC, Tsiftsoglou AS
Int J Oncol 2024 Apr;64(4) Epub 2024 Mar 1 doi: 10.3892/ijo.2024.5630. PMID: 38426621Free PMC Article
Pyruvate kinase activators: targeting red cell metabolism in sickle cell disease.
Xu JZ, Vercellotti GM
Hematology Am Soc Hematol Educ Program 2023 Dec 8;2023(1):107-113. doi: 10.1182/hematology.2023000467. PMID: 38066891Free PMC Article
One-year safety and efficacy of mitapivat in sickle cell disease: follow-up results of a phase 2, open-label study.
van Dijk MJ, Rab MAE, van Oirschot BA, Bos J, Derichs C, Rijneveld AW, Cnossen MH, Nur E, Biemond BJ, Bartels M, Jans JJM, van Solinge WW, Schutgens REG, van Wijk R, van Beers EJ
Blood Adv 2023 Dec 26;7(24):7539-7550. doi: 10.1182/bloodadvances.2023011477. PMID: 37934880Free PMC Article
Mitapivat for sickle cell disease and thalassemia.
Pilo F, Angelucci E
Drugs Today (Barc) 2023 Mar;59(3):125-134. doi: 10.1358/dot.2023.59.3.3521880. PMID: 36847623

Prognosis

One-year safety and efficacy of mitapivat in sickle cell disease: follow-up results of a phase 2, open-label study.
van Dijk MJ, Rab MAE, van Oirschot BA, Bos J, Derichs C, Rijneveld AW, Cnossen MH, Nur E, Biemond BJ, Bartels M, Jans JJM, van Solinge WW, Schutgens REG, van Wijk R, van Beers EJ
Blood Adv 2023 Dec 26;7(24):7539-7550. doi: 10.1182/bloodadvances.2023011477. PMID: 37934880Free PMC Article
VER-246608, a novel pan-isoform ATP competitive inhibitor of pyruvate dehydrogenase kinase, disrupts Warburg metabolism and induces context-dependent cytostasis in cancer cells.
Moore JD, Staniszewska A, Shaw T, D'Alessandro J, Davis B, Surgenor A, Baker L, Matassova N, Murray J, Macias A, Brough P, Wood M, Mahon PC
Oncotarget 2014 Dec 30;5(24):12862-76. doi: 10.18632/oncotarget.2656. PMID: 25404640Free PMC Article
Hemolytic anemias due to erythrocyte enzyme deficiencies.
Jacobasch G, Rapoport SM
Mol Aspects Med 1996 Apr;17(2):143-70. doi: 10.1016/0098-2997(96)88345-2. PMID: 8813716
Clinical trial of young red cell transfusions.
Cohen AR, Schmidt JM, Martin MB, Barnsley W, Schwartz E
J Pediatr 1984 Jun;104(6):865-8. doi: 10.1016/s0022-3476(84)80482-5. PMID: 6374083

Clinical prediction guides

Enzymatic Changes in Red Blood Cells of Diamond-Blackfan Anemia.
Utsugisawa T, Uchiyama T, Toki T, Shimojima-Yamamoto K, Ohga S, Ito E, Kanno H
Tohoku J Exp Med 2021 Sep;255(1):49-55. doi: 10.1620/tjem.255.49. PMID: 34526430
VER-246608, a novel pan-isoform ATP competitive inhibitor of pyruvate dehydrogenase kinase, disrupts Warburg metabolism and induces context-dependent cytostasis in cancer cells.
Moore JD, Staniszewska A, Shaw T, D'Alessandro J, Davis B, Surgenor A, Baker L, Matassova N, Murray J, Macias A, Brough P, Wood M, Mahon PC
Oncotarget 2014 Dec 30;5(24):12862-76. doi: 10.18632/oncotarget.2656. PMID: 25404640Free PMC Article
Transgenic rescue of hemolytic anemia due to red blood cell pyruvate kinase deficiency.
Kanno H, Utsugisawa T, Aizawa S, Koizumi T, Aisaki K, Hamada T, Ogura H, Fujii H
Haematologica 2007 Jun;92(6):731-7. doi: 10.3324/haematol.10945. PMID: 17550844
Characteristics of red cell pyruvate kinase (PK) and pyrimidine 5'nucleotidase (P5N) abnormalities in acute leukaemia and chronic lymphoid diseases with leukaemic expression.
Vives Corrons JL, Pujades MA, Sierra J, Ribera JM
Br J Haematol 1987 Jun;66(2):173-7. doi: 10.1111/j.1365-2141.1987.tb01295.x. PMID: 3038159
Clinical trial of young red cell transfusions.
Cohen AR, Schmidt JM, Martin MB, Barnsley W, Schwartz E
J Pediatr 1984 Jun;104(6):865-8. doi: 10.1016/s0022-3476(84)80482-5. PMID: 6374083

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