Kaiser-Kupfer M I, Valle D, Del Valle L A
Am J Ophthalmol. 1978 Feb;85(2):200-4. doi: 10.1016/s0002-9394(14)75948-3.
To establish the enzyme defect in gyrate atrophy, we measured the activity of ornithine aminotransferase in phytohemagglutinin stimulated lymphocytes in a patient with gyrate atrophy, her daughter, and three normal controls. The patient's cells had no detectable ornithine aminotransferase activity and the daughter's cells had 44% of control activity. This intermediate value is characteristic of an obligate heterozygote. These results are the first demonstration of an enzyme defect in gyrate atrophy.
为了确定回旋状萎缩中的酶缺陷，我们检测了一名患有回旋状萎缩的患者、她的女儿以及三名正常对照者经植物血凝素刺激的淋巴细胞中鸟氨酸转氨酶的活性。该患者的细胞未检测到鸟氨酸转氨酶活性，而其女儿的细胞活性为对照活性的44%。这个中间值是纯合子杂合子的特征。这些结果首次证明了回旋状萎缩中存在酶缺陷。
