Qualitative and quantitative abnormalities of argininosuccinate synthetase in citrullinemia.
Qualitative and quantitative abnormalities of argininosuccinate synthetase in citrullinemia.
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瓜氨酸血症中精氨酸琥珀酸合成酶的定性和定量异常。
DOI：
10.1016/0009-8981(81)90318-1
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发表时间：
1981
期刊：
影响因子：
--
通讯作者：
Tsunehiko Katsunuma
中科院分区：
文献类型：
--
作者：
Takeyori Saheki;Atsuko Ueda;Masakazu Hosoya;Kimiko Kusumi;Shigeo Takada;Michio Tsuda;Tsunehiko Katsunuma
对7例日本瓜氨酸血症患者进行肝脏酶学和免疫化学分析。在肝脏的尿素循环酶中，只有精氨酸琥珀酸合成酶的活性特异性下降到正常对照的2 ~ 50%。采用双免疫扩散法和抗大鼠精氨酸琥珀酸合成酶抗血清对患者肝脏精氨酸琥珀酸合成酶进行免疫化学检测，结果与对照组无明显差异。单径向免疫扩散法免疫化学分析显示，5例患者肝精氨酸琥珀酸合成酶活性下降可解释为酶蛋白量下降，而另外2例患者活性下降不伴有酶蛋白下降。肝精氨酸琥珀酸合成酶前5种底物的km值与对照相似，后2种底物的动力学性质在km值较高和负协同性方面存在较大差异。从这些结果来看，我们认为瓜氨酸血症可能包括多种类型，包括精氨酸琥珀酸合成酶的定性或定量异常，这些异常是由某些基因或肝脏表观遗传过程中的某些缺陷引起的。
Enzymological and immunochemical analyses of the liver were performed in seven Japanese patients with citrullinemia.Among the urea cycle enzymes in the liver, only the activity of argininosuccinate synthetase was specifically decreased to 2 to 50% of normal controls. Liver argininosuccinate synthetase of patients was indistinguishable from that of controls when tested immunochemically by Ouchterlony's double immunodiffusion technique with anti-rat argininosuccinate synthetase antiserum. Immunochemical analysis by means of the single radial immunodiffusion revealed that the decrease in the activity of liver argininosuccinate synthetase was explainable by a decrease in the amount of the enzyme protein in five patients, while the decrease in the activity in the other two patients was not accompanied by a decrease of enzyme protein.TheKmvalues for the substrates of liver argininosuccinate synthetase of the former five were similar to those of the control, while the kinetic properties of the latter two were quite different in terms of higherKmvalues and negative cooperativity.From these results, we consider that citrullinemia may consist of more than one type including qualitative or quantitative abnormalities of argininosuccinate synthetase caused by some defects in certain genes or in the epigenetic processes in the liver.
瓜氨酸血症的病因学和病理学
DOI：
--
发表时间：
2007
期刊：
臨床化学 36(1)
影响因子：
--
作者：
佐伯武頼;小林圭子.
通讯作者：
小林圭子.