Thirteen cases of pyruvate kinase deficiency found in Japan.
Thirteen cases of pyruvate kinase (PK) deficiency, considered to be heterozygous for different PK mutants because of no consanguinities in their parents, were characterized by the International Committee for Standardization in Haematology (ICSH) recommended methods. These deficiency cases are named PK "Kagoshima," PK "Kyoto," PK "Takamatsu," PK "Abeno," PK "Kobe," PK "Marugame," PK "Hoenzaka," PK "Osaka," PK "Motomachi," PK "Gifu," PK "Hiroshima" PK "Matsumoto," and PK "Tama." The characteristics of mutant PK enzymes suggest that the cause of chronic hemolysis depends mainly on decreased affinity for phosphoenolpyruvate, thermolability, increased inhibition by adenosine triphosphate, and low activation by fructose-1, 6-diphosphate.
D000293:Adolescent; D000328:Adult; D000743:Anemia, Hemolytic / Q000201:enzymology / Q000209:etiology* / Q000235:genetics; D002648:Child; D002675:Child, Preschool; D005260:Female; D006801:Humans; D007223:Infant; D007527:Isoenzymes / Q000378:metabolism; D007564:Japan; D008297:Male; D008875:Middle Aged; D009154:Mutation; D011770:Pyruvate Kinase / Q000172:deficiency* / Q000235:genetics / Q000378:metabolism
D007527:Isoenzymes; D011770:Pyruvate Kinase