先天性红细胞生成性卟啉症患者酶活性的研究  

Study of Enzyme Activity in Patients with Congenital Erythropoietic Porphyria

作　　者：李存保[1] 王美玲 王文礼[1] 高建萍[1] 郭晓宇[1] 马界荣 

机构地区：[1]内蒙古医学院基础部化学教研室

出　　处：《中国生物化学与分子生物学报》1999年第3期501-503,共3页Chinese Journal of Biochemistry and Molecular Biology

基　　金：内蒙古自治区卫生厅资助项目

摘　　要：先天性红细胞生成性卟啉症（ｃｏｎｇｅｎｉｔａｌｅｒｙ－ｔｈｒｏｐｏｉｅｔｉｃｐｏｒｐｈｙｒｉａ，ＣＥＰ）是Ｇｕｎｔｈｅｒ于１９１１年首先提出并加以描述，有时亦称Ｇｕｎｔｈｅｒ病．该病是因遗传性缺陷所致卟啉代谢中有关酶的异常造成的卟啉代谢紊乱而发生的一...To study the enzyme activity in patients with congenital erythropoietic porphyria (CEP), a higher sensitive and simple method for measuring erythrocyte porphobilinogen deaminase (PBGD) and δ aminolevulinate dehydratase (ALAD) activities was estabilished by using fluorescence spectrophotometry. The erythrocyte uroporphyrinogen Ⅰ synthase (UROS), uroporphyrinogen Ⅲ cosynthase (URO COS), uroporphyrinogen Ⅰ decarboxylase (UROD), δ aminolevulinate synthase (ALAS),PBGD and ALAD activities of 16 CEP patients and 53 normal subjects were studied. It was found that erythrocyte ALAD,ALAS,UROS and PBGD activities of the CEP patients was twice as high as that of the normal subjects, and the URO COS,UROD activities of the CEP patients were 5 7 and 2 times lower than those of the normal subjects, respectively. The results show that CEP is caused by the deficiency of URO COS.

关 键 词：CEP 卟啉代谢 酶活性 

分 类 号：R589.8[医药卫生—内分泌]