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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, or congenital nonspherocytic hemolyic anemia-2 (CNSHA2), 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

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