Kvittingen E A, Rootwelt H, Brandtzaeg P, Bergan A, Berger R
Institute of Clinical Biochemistry, University of Oslo, Rikshospitalet Oslo, Norway.
J Clin Invest. 1993 Apr;91(4):1816-21. doi: 10.1172/JCI116393.
Two Norwegian patients with chronic tyrosinemia type I showed > 50% residual fumarylacetoacetase activity in liver samples obtained during liver transplantation. The enzyme characteristics of both patients were comparable with those of a normal control. Immunohistochemistry on liver sections from these patients and from three other Norwegian tyrosinemia patients revealed a mosaicism of fumarylacetoacetase immunoreactivity corresponding completely or partly to some of the regenerating nodules. This appearance of enzyme protein is presumably induced by the disease process. The mechanism involved remains unclear and could be caused by a genetic alteration, regained translation of messenger RNA, or to enhanced stability of an abnormal enzyme.
两名患有I型慢性酪氨酸血症的挪威患者在肝移植期间获取的肝脏样本中显示出>50%的残余富马酰乙酰乙酸酶活性。两名患者的酶特性与正常对照相当。对这些患者以及其他三名挪威酪氨酸血症患者的肝脏切片进行免疫组织化学分析，发现富马酰乙酰乙酸酶免疫反应性呈镶嵌现象，完全或部分对应于一些再生结节。这种酶蛋白的表现可能是由疾病过程诱导的。其中涉及的机制尚不清楚，可能是由基因改变、信使核糖核酸重新翻译或异常酶稳定性增强引起的。
