Gross U, Gerlach R, Kühnel A, Seifert V, Doss M O
Department of Neurosurgery, Johann Wolfgang Goethe University, Frankfurt/Main, Germany.
J Inherit Metab Dis. 2003;26(6):565-70. doi: 10.1023/a:1025952031660.
Coproporphyrinogen III oxidase is deficient in hereditary coproporphyria. An activity assay for this enzyme in mononuclear cells, besides the preparation of the substrate, are presented. The separation conditions for the product of the test protoporphyrin IX by gradient, reversed-phase high-performance liquid chromatography are given. The normal value from mononuclear cells of healthy volunteers was 138 +/- 21 pkat/g total soluble protein (mean +/- SD). The enzyme activity of a family with hereditary coproporphyria was measured. The gene carriers exhibit a specific coproporphyrinogen III oxidase activity of 61-90 pkat/g total soluble protein.
遗传性粪卟啉症患者缺乏粪卟啉原III氧化酶。本文介绍了除底物制备外，在单核细胞中对该酶进行活性测定的方法。给出了通过梯度反相高效液相色谱法分离测试原卟啉IX产物的条件。健康志愿者单核细胞的正常值为138±21 pkat/g总可溶性蛋白（平均值±标准差）。对一个遗传性粪卟啉症家族的酶活性进行了测定。基因携带者的粪卟啉原III氧化酶活性为61 - 90 pkat/g总可溶性蛋白。
