title: Human erythrocyte phosphoglycerate kinase deficiency: presence in a deficient patient of a stable variant with lowered catalytic activity.
abstract: The phosphoglycerate kinase deficiency found in one boy with hemolytic anemia was associated with an almost normal concentration of phosphoglycerate kinase-immunologically related material in the patient's erythrocytes. Consequently the catalytic activity of the mutant enzyme was drastically lowered. Besides, the abnormal phosphoglycerate kinase was more stable to heat and to urea than normal phosphoglycerate kinase and its isoelectric point was slightly increased.
mesh_terms: D000328:Adult; D000743:Anemia, Hemolytic / Q000201:enzymology; D000937:Antigen-Antibody Reactions; D002648:Child; D004355:Drug Stability; D004912:Erythrocytes / Q000201:enzymology*; D005260:Female; D014644:Genetic Variation; D006801:Humans; D005779:Immunodiffusion; D007962:Leukocytes / Q000201:enzymology; D008297:Male; D010375:Pedigree; D010735:Phosphoglycerate Kinase / Q000097:blood / Q000172:deficiency* / Q000302:isolation & purification
chemical_list: D010735:Phosphoglycerate Kinase