pyruvate kinase deficiency of red cells
A 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.
MONDO:0006506
congenital nonspherocytic hemolytic anemia
is_a
MONDO:0017688
disorder of glycolysis
is_a
MONDO:0020585
anemia due to erythrocyte enzyme disorder
is_a
PK deficiency
exact
Pyruvate Kinase Deficiency
exact
anemia, congenital, nonspherocytic hemolytic, 2, pyruvate kinase deficient
exact
hemolytic anaemia due to pyruvate Kinase deficiency
exact
hemolytic anaemia due to red cell pyruvate kinase deficiency
exact
hemolytic anemia due to pyruvate Kinase deficiency
exact
hemolytic anemia due to red cell pyruvate kinase deficiency
exact
pyruvate kinase deficiency
exact
pyruvate kinase deficiency of erythrocyte
exact
pyruvate kinase deficiency of erythrocytes
exact
pyruvate kinase deficiency of red cells
exact
SPAC4H3.10c