Erythrocyte PK deficiency: biochemical characterization of a patient with haemolytic anemia.
Erythrocyte pyruvate kinase deficiency was detected in a Cuban girl with congenital nonspherocytic haemolytic anemia. Kinetic and immunochemical studies showed that the case was different from those hitherto reported. The variant(s) was tentatively designated PK "Alquizar", following the recommendations of the International Committee for Standardization in Hematology.
D000244:Adenosine Diphosphate / Q000097:blood; D000255:Adenosine Triphosphate / Q000097:blood; D000293:Adolescent; D000743:Anemia, Hemolytic / Q000097:blood*; D004912:Erythrocytes / Q000201:enzymology* / Q000378:metabolism; D005260:Female; D005635:Fructosediphosphates / Q000494:pharmacology; D006801:Humans; D006863:Hydrogen-Ion Concentration; D011770:Pyruvate Kinase / Q000172:deficiency*
D005635:Fructosediphosphates; D000244:Adenosine Diphosphate; D000255:Adenosine Triphosphate; D011770:Pyruvate Kinase; C029063:fructose-1,6-diphosphate