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Thirteen cases of pyruvate kinase deficiency found in Japan
Author(s) -
Ishida Yoji,
Miwa Shiro,
Fujii Hisaichi,
Fujinami Noboru,
Takegawa Susumu,
Yamato Kunio
Publication year - 1981
Publication title -
american journal of hematology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.456
H-Index - 105
eISSN - 1096-8652
pISSN - 0361-8609
DOI - 10.1002/ajh.2830100303
Subject(s) - pyruvate kinase , pyruvate kinase deficiency , hemolysis , phosphoenolpyruvate carboxykinase , enzyme , adenosine diphosphate , mutant , medicine , biochemistry , chemistry , endocrinology , pharmacology , glycolysis , platelet , platelet aggregation , gene
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.