Thirteen cases of pyruvate kinase deficiency found in Japan
| Autor: | Hisaichi Fujii, Shiro Miwa, Noboru Fujinami, S. Takegawa, Yoji Ishida, Kunio Yamato |
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| Rok vydání: | 1981 |
| Předmět: |
Adult
Male medicine.medical_specialty Anemia Hemolytic Adolescent Mutant Pyruvate Kinase Biology chemistry.chemical_compound Japan Internal medicine medicine Humans Child chemistry.chemical_classification Hematology Infant Middle Aged medicine.disease Hemolysis Isoenzymes Enzyme chemistry Biochemistry Child Preschool Mutation Female Phosphoenolpyruvate carboxykinase Adenosine triphosphate Pyruvate kinase Pyruvate kinase deficiency |
| Zdroj: | American journal of hematology. 10(3) |
| ISSN: | 0361-8609 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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