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Pyruvate kinase deficiency of red cells
rareA rare, genetic metabolic disorder due to pyruvate kinase deficiency characterized by a variable degree of chronic nonspherocytic hemolytic anemia resulting in a variable clinical manifestations ranging from fatal anemia at birth to a to a fully compensated hemolysis without apparent anemia.
- Identifiers
- MONDO:0009950 OMIM:266200Orphanet:766
- Causal genes
- PKLR
- Part of
- Anemia due to erythrocyte enzyme disorderCongenital nonspherocytic hemolytic anemiaDisorder of glycolysis
- Also known as
- anemia, congenital, nonspherocytic hemolytic, 2, pyruvate kinase deficient · hemolytic anaemia due to pyruvate Kinase deficiency · hemolytic anaemia due to red cell pyruvate kinase deficiency · hemolytic anemia due to pyruvate Kinase deficiency · hemolytic anemia due to red cell pyruvate kinase deficiency
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