2型高脯氨酸血症：缺乏δ1-吡咯啉-5-羧酸脱氢酶活性。
Type 2 hyperprolinemia: absence of delta1-pyrroline-5-carboxylic acid dehydrogenase activity.
作者信息
Valle D L, Phang J M, Goodman S I
出版信息
Science. 1974 Sep 20;185(4156):1053-4. doi: 10.1126/science.185.4156.1053.
PMID:4369405
Abstract
triangle up(1)-Pyrroline-5-carboxylic acid dehydrogenase activity was measured radioisotopically in normal and type 2 hyperprolinemia fibroblasts. The type 2 cells had no detectable activity over a range of reaction conditions whereas normal cells had easily measurable activity. This enzymatic defect accounts for the biochemical abnormalities in type 2 hyperprolinemia.
摘要
向上三角形(1)-吡咯啉-5-羧酸脱氢酶活性在正常和2型高脯氨酸血症成纤维细胞中通过放射性同位素法进行测定。在一系列反应条件下，2型细胞没有可检测到的活性，而正常细胞具有易于测量的活性。这种酶缺陷解释了2型高脯氨酸血症中的生化异常。
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