人先天性红细胞生成性卟啉病中的尿卟啉原3同合成酶
Uroporphyrinogen 3 cosynthetase in human congenital erythropoietic porphyria.
作者信息
Romeo G, Levin E Y
出版信息
Proc Natl Acad Sci U S A. 1969 Jul;63(3):856-63. doi: 10.1073/pnas.63.3.856.
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.
摘要
五名先天性红细胞生成性卟啉病患者的溶血产物中尿卟啉原III同合成酶的活性远低于对照样本中的活性。患者体内同合成酶活性较低并非由于存在游离抑制剂或某些竞争性酶活性，因为卟啉病患者的溶血产物既不干扰正常受试者溶血产物的同合成酶活性，也不干扰从小鼠造血脾脏制备的同合成酶活性。先天性红细胞生成性卟啉病中同合成酶的这种部分缺陷与先前在临床上类似的牛红细胞生成性卟啉病中所显示的情况相符，并解释了人类疾病中尿卟啉I的过量产生。
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