Kahn A, Marie J, Galand C, Boivin P
Scand J Haematol. 1976 Apr;16(4):250-7. doi: 10.1111/j.1600-0609.1976.tb01146.x.
Two patients with mild chronic haemolytic anaemia, a mother and her son, were found to be heterozygous for erythrocyte pyruvate kinase deficiency. In the red blood cells the enzymatic activity was reduced by about 50% and the residual PK had normal kinetic properties, stability and electrofocusing pattern. The PK antigen concentration was also decreased by half, so that the ratio of the enzymatic activity to the immunological reactivity (i.e. the molecular specific activity) was normal. In the son's liver PK enzymatic activity was slightly reduced and, above all, an abnormal active form, more anodic than normal PK, was detected by electrofocusing. The propositus's liver PK was also slightly thermo-unstable. It is suggested that the patients were heterozygous for an unstable PK variant which is found in liver, nucleated tissue actively synthesizing proteins, but which disappeared from the erythrocytes because of its unstability.
两名患有轻度慢性溶血性贫血的患者，一位母亲和她的儿子，被发现红细胞丙酮酸激酶缺乏呈杂合子状态。在红细胞中，酶活性降低了约50%，残余的丙酮酸激酶具有正常的动力学特性、稳定性和等电聚焦图谱。丙酮酸激酶抗原浓度也减半，因此酶活性与免疫反应性的比值（即分子比活性）正常。在儿子的肝脏中，丙酮酸激酶酶活性略有降低，最重要的是，通过等电聚焦检测到一种异常的活性形式，比正常丙酮酸激酶更偏向阳极。先证者的肝脏丙酮酸激酶也略有热不稳定性。有人提出，这些患者是一种不稳定的丙酮酸激酶变体的杂合子，这种变体存在于肝脏、积极合成蛋白质的有核组织中，但由于其不稳定性而从红细胞中消失。
