Harris E D
Department of Biochemistry and Biophysics, Faculty of Nutrition, Texas A&M University, College Station 77843-2128, USA.
Nutr Rev. 1995 Jun;53(6):170-3. doi: 10.1111/j.1753-4887.1995.tb01545.x.
A rare genetic defect in ceruloplasmin biosynthesis has provided the strongest evidence to date that ceruloplasmin is essential for iron metabolism and tissue distribution in humans. A aceruloplasminemia results in massive accumulations of iron in the liver and brain and is associated with retinal degeneration and diabetes.
铜蓝蛋白生物合成中的一种罕见基因缺陷提供了迄今为止最有力的证据,证明铜蓝蛋白对人体铁代谢和组织分布至关重要。无铜蓝蛋白血症会导致肝脏和大脑中铁的大量积累,并与视网膜变性和糖尿病有关。