UROPORPHYRINOGEN III COSYNTHETASE IN HUMAN CONGENITAL ERYTHROPOIETIC PORPHYRIA
UROPORPHYRINOGEN III COSYNTHETASE IN HUMAN CONGENITAL ERYTHROPOIETIC PORPHYRIA
复制标题
人类先天性红细胞生成性卟啉症中的尿卟啉原 III 辅合成酶
DOI：
10.1073/pnas.63.3.856
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发表时间：
1969
影响因子：
11.1
通讯作者：
E. Y. Levin
中科院分区：
文献类型：
--
作者：
G. Romeo;E. Y. Levin
摘要
5例先天性红细胞生成性卟啉症患者的溶血产物中尿卟啉原III合成酶的活性远低于对照样品中的活性。患者体内的辅合成酶活性较低并不是因为存在游离抑制剂或某些竞争性酶活性，因为来自斑状受试者的溶血物既不干扰来自正常受试者的溶血物的辅合成酶活性，也不干扰从小鼠脾脏中制备的辅合成酶。这种先天性红细胞生成性卟啉症的合成酶的部分缺乏与先前在临床上类似的牛红细胞生成性卟啉症中所显示的相对应，并解释了人类疾病中尿卟啉I的过量产生。
Abstract
Activity of the enzyme uroporphyrinogen III cosynthetase in hemolysates from five patients with congenital erythropoietic porphyria was much lower than the activity in control samples. The low cosynthetase activity in patients was not due to the presence of a free inhibitor or some competing enzymatic activity, because hemolysates from porphyric subjects did not interfere either with the cosynthetase activity of hemolysates from normal subjects or with cosynthetase prepared from hematopoietic mouse spleen. This partial deficiency of cosynthetase in congenital erythropoietic porphyria corresponds to that shown previously in the clinically similar erythropoietic porphyria of cattle and explains the overproduction of uroporphyrin I in the human disease.