/pyruvate kinase deficiency of red cells

pyruvate kinase deficiency of red cells

Rare Disease

MONDO:0009950

Also Known As

PK deficiencyPyruvate Kinase Deficiencyanemia, congenital, nonspherocytic hemolytic, 2, pyruvate kinase deficienthemolytic anaemia due to pyruvate Kinase deficiencyhemolytic anaemia due to red cell pyruvate kinase deficiencyhemolytic anemia due to pyruvate Kinase deficiencyhemolytic anemia due to red cell pyruvate kinase deficiencypyruvate kinase deficiencypyruvate kinase deficiency of erythrocytepyruvate kinase deficiency of erythrocytespyruvate kinase deficiency of red cells

Definition

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.