Three cases of hemolytic anemia with erythrocyte pyruvate kinase deficiency in Alberta.
Erythrocyte pyruvate kinase (PK) activity was determined by the lactate dehydrogenase-coupled spectrophotometric assay. The effects of modifications in the buffer and in substrate concentrations were studied. Three patients with congenital non-spherocytic hemolytic anemia were deficient in erythrocyte PK, and were evidently homozygous for this deficiency. The daughter of one patient and the parents of another had intermediate PK levels and were probably heterozygous. The erythrocyte adenosine triphosphate (ATP) level was low in one patient, high in another. Adenosine triphosphatase activity of the erythrocyte membranes of one patient was normal.
D000255:Adenosine Triphosphate; D000293:Adolescent; D000746:Anemia, Hemolytic, Congenital Nonspherocytic / Q000378:metabolism*; D002648:Child; D004912:Erythrocytes / Q000201:enzymology*; D005260:Female; D006801:Humans; D007223:Infant; D008297:Male; D011770:Pyruvate Kinase; D013053:Spectrophotometry
D000255:Adenosine Triphosphate; D011770:Pyruvate Kinase