Miwa S, Fujii H, Takegawa S, Nakatsuji T, Yamato K, Ishida Y, Ninomiya N
Br J Haematol. 1980 Aug;45(4):575-83. doi: 10.1111/j.1365-2141.1980.tb07181.x.
Seven new red-cell pyruvate kinase (PK) variants were characterized by the methods recently recommended by the International Committee for Stanardization in Haematology. The cases were all true homozygote as evidenced by consanguineous marriages of the parents; all are Japanese. These variants were designated as PK Tokyo, PK Nagasaki, PK Sapporo, PK Maebashi, PK Itabashi, PK Fukushima and PK Aizu, respectively. Low substrate affinity (high K0.5S for phosphoenolpyruvate) and thermal instability appear to play major roles in causing defective enzyme function, resulting in chronic haemolytic anaemia. Product inhibition of PK by ATP may also play an additional role in causing haemolysis in more than half the cases.
按照国际血液学标准化委员会最近推荐的方法，对七种新的红细胞丙酮酸激酶（PK）变体进行了鉴定。这些病例均为真正的纯合子，其父母近亲结婚可证明这一点；所有病例均为日本人。这些变体分别被命名为PK东京、PK长崎、PK札幌、PK前桥、PK板桥区、PK福岛和PK会津。低底物亲和力（对磷酸烯醇丙酮酸的K0.5S较高）和热不稳定性似乎在导致酶功能缺陷中起主要作用，从而导致慢性溶血性贫血。在一半以上的病例中，ATP对PK的产物抑制可能在溶血过程中也起额外作用。
