Kobayashi K, Itakura Y, Saheki T, Nakano K, Sase M, Oyanagi K, Okamoto R, Mino M
Clin Chim Acta. 1986 Aug 30;159(1):59-67. doi: 10.1016/0009-8981(86)90166-x.
The enzyme defects in two cases of argininosuccinic aciduria were examined at the molecular level by enzymatic and immunological methods. No argininosuccinate lyase activity was detected in the liver or erythrocytes of either patient nor in the kidney or brain of one of the patients even in the presence of high concentrations of the substrate. The titration curve of antiserum to human argininosuccinate lyase with the liver extract from a control subject was not affected by the addition of the liver extracts from one of the patients. Double immunodiffusion analysis revealed a single precipitin line between the purified antiserum and the liver extract from a control, but no precipitin lines between the antisera and the liver extracts from the two patients. These results indicate a complete or almost complete defect of an immunologically cross-reactive material in the liver of the patients.
通过酶学和免疫学方法在分子水平上检测了两例精氨琥珀酸尿症患者的酶缺陷。在两名患者的肝脏或红细胞中均未检测到精氨琥珀酸裂解酶活性，在其中一名患者的肾脏或大脑中即使存在高浓度底物也未检测到该酶活性。用对照受试者的肝脏提取物对人精氨琥珀酸裂解酶抗血清进行滴定曲线分析时，加入其中一名患者的肝脏提取物后曲线不受影响。双向免疫扩散分析显示，纯化抗血清与对照肝脏提取物之间出现一条沉淀线，但抗血清与两名患者的肝脏提取物之间未出现沉淀线。这些结果表明患者肝脏中免疫交叉反应物质存在完全或几乎完全缺陷。
