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Thirteen cases of pyruvate kinase deficiency found in Japan

1981; Wiley; Volume: 10; Issue: 3 Linguagem: Inglês

10.1002/ajh.2830100303

1096-8652

Yoji Ishida, Shiro Miwa, Hisaichi Fujii, Noboru Fujinami, S. Takegawa, Kunio Yamato,

Erythrocyte Function and Pathophysiology

Abstract 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.