Papa G, De Laurenzi A, Isacchi G C, Bonifazi G, Parziale L, Salvati A M
Acta Haematol. 1979;61(5):288-94. doi: 10.1159/000207674.
Erythrocyte PK deficiency was detected in a family from Latium in Italy. This PK variant is characterized by normal or increased activity immediately after blood collection, instability to storage, to heat and to urea. Only in the propositus the mutant enzyme exhibited an increased Michaelis constant for PEP, slightly increased inhibition by ATP and an altered optimum pH value. The kinetic anomaly was only partially corrected by activation with F-1, 6-DP and by addition of 2-ME. From these results it can be concluded that in the family observed two distinct erythrocyte PK alterations were demonstrable: instability in the propositus and his father; low affinity for PEP and altered optimum pH value only in the propositus.
在意大利拉齐奥的一个家族中检测到红细胞丙酮酸激酶（PK）缺乏症。这种PK变异体的特征是采血后活性正常或增加，对储存、热和尿素不稳定。仅先证者的突变酶对磷酸烯醇式丙酮酸（PEP）的米氏常数增加，对三磷酸腺苷（ATP）的抑制作用略有增加，且最适pH值改变。用1,6-二磷酸果糖（F-1,6-DP）激活和添加2-巯基乙醇（2-ME）只能部分纠正动力学异常。从这些结果可以得出结论，在所观察的家族中可证明有两种不同的红细胞PK改变：先证者及其父亲表现为不稳定性；仅先证者表现为对PEP亲和力低和最适pH值改变。
