Miwa S
Hemoglobin. 1980;4(5-6):627-33. doi: 10.3109/03630268008997732.
Seven new pyruvate kinase (PK) variants were characterized by the recently established recommended methods by the International Committee for Standardization in Haematology (ICSH). The seven cases were all true homozygotes as evidenced by consanguineous marriages of the parents. All of them were Japanese. These variants were designated PK Tokyo, Nagasaki, Sapporo, Maebashi, Itabashi, Fukushima, and Aizu. Low substrate affinity for phosphoenolpyruvate and thermal instability seem to play a major role in causing clinical manifestation of chronic hemolysis. Product inhibition of PK by ATP may also play an additional role in some cases.
国际血液学标准化委员会（ICSH）最近制定的推荐方法对7种新的丙酮酸激酶（PK）变体进行了特征描述。这7个病例均为真正的纯合子，其父母近亲结婚证明了这一点。他们均为日本人。这些变体被命名为PK东京、长崎、札幌、前桥、板桥、福岛和会津。对磷酸烯醇丙酮酸的低底物亲和力和热不稳定性似乎在导致慢性溶血临床表现中起主要作用。在某些情况下，ATP对PK的产物抑制可能也起额外作用。
