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Pyruvate kinase hyperactivity

MedGen UID:
350114
•Concept ID:
C1863224
•
Disease or Syndrome
Synonym: Adenosine triphosphate, elevated, of erythrocytes
 
Gene (location): PKLR (1q22)
 
Monarch Initiative: MONDO:0007067
OMIM®: 102900

Definition

Elevation of red cell ATP levels is accompanied by elevated red cell pyruvate kinase activity and mild erythrocytosis. Red cell life span is slightly shortened. The patients in whom this trait was first described were asymptomatic (summary by Beutler et al., 1997). [from OMIM]

Clinical features

From HPO
Polycythemia
MedGen UID:
18552
•Concept ID:
C0032461
•
Disease or Syndrome
Polycythemia is diagnosed if the red blood cell count, the hemoglobin level, and the red blood cell volume all exceed the upper limits of normal.
See: Feature record | Search on this feature
Reduced erythrocyte 2,3-diphosphoglycerate concentration
MedGen UID:
868155
•Concept ID:
C4022546
•
Finding
This term refers to an inappropriate low 2,3-DPG concentration in erythrocytes. 2,3-diphosphoglycerate (2,3-DPG) controls the movement of oxygen from red blood cells to tissues. Anemia is usually accompanied by an increased level of 2,3-DPG in order to promote tissue oxygenation.
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Recent clinical studies

Diagnosis

Comparative study of human M2-type pyruvate kinases isolated from human leukocytes and erythrocytes of a patient with red cell pyruvate kinase hyperactivity.
Kechemir D, Max-Audit I, Rosa R
Enzyme 1989;41(3):121-30. doi: 10.1159/000469067. PMID: 2498076

Prognosis

Novel type of red blood cell pyruvate kinase hyperactivity predicts a remote regulatory locus involved in PKLR gene expression.
van Oirschot BA, Francois JJ, van Solinge WW, van Wesel AC, Rijksen G, van Amstel HK, van Wijk R
Am J Hematol 2014 Apr;89(4):380-4. Epub 2014 Mar 3 doi: 10.1002/ajh.23647. PMID: 24375447

Clinical prediction guides

Novel type of red blood cell pyruvate kinase hyperactivity predicts a remote regulatory locus involved in PKLR gene expression.
van Oirschot BA, Francois JJ, van Solinge WW, van Wesel AC, Rijksen G, van Amstel HK, van Wijk R
Am J Hematol 2014 Apr;89(4):380-4. Epub 2014 Mar 3 doi: 10.1002/ajh.23647. PMID: 24375447

Supplemental Content

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    Related information

    • ClinVar
      Related medical variations
    • Gene
      Related information in NCBI Gene
    • GTR
      Related information in GTR
    • GTR(Clinical)
      Clinical tests in GTR
    • MeSH
      Related Medical Subject Headings
    • OMIM
      Related records in OMIM
    • OMIM(Genes)
      OMIM records containing genes associated with phenotypes registered in MedGen
    • PMC Articles
      Related information in PubMed Central Links
    • PubMed
      Related literature resources in PubMed
    • PubMed (OMIM)
      Related literature resources in PubMed

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