Chan W Y, Rennert O M
J Am Coll Nutr. 1985;4(1):39-48. doi: 10.1080/07315724.1985.10720065.
Genetic trace metal disturbances can be at three levels. Trace metals play an important role in the metabolism of genetic macromolecules and the information transfer system. Deficiency or excess of trace metals caused either by dietary or genetic factors will affect the normal functioning of the whole organism. The roles of trace metals in carcinogenesis/mutagenesis and ageing are typical of this category. The second level of genetic trace metal disturbances affect the metabolic pathway of the trace metal itself. Biochemical derangement resulting from genetic defects cause aberrant metabolism of the element and thus disease symptoms. Diseases caused by abnormal metabolism of copper, zinc, iron, and molybdenum are discussed. Trace metal disturbances can also be the result of other genetic diseases. This aspect of genetic trace metal disturbances is least investigated. However, information should be important for improving the existing treatment protocol for the more common inborn errors of metabolism, such as phenylketonuria.
遗传性微量金属紊乱可分为三个层次。微量金属在遗传大分子的代谢和信息传递系统中起着重要作用。饮食或遗传因素导致的微量金属缺乏或过量会影响整个机体的正常功能。微量金属在致癌/致突变和衰老过程中的作用就是这类情况的典型例子。遗传性微量金属紊乱的第二个层次影响微量金属自身的代谢途径。遗传缺陷导致的生化紊乱会引起元素代谢异常,进而产生疾病症状。文中讨论了由铜、锌、铁和钼代谢异常引起的疾病。微量金属紊乱也可能是其他遗传疾病的结果。这方面的遗传性微量金属紊乱研究最少。然而,这些信息对于改进现有针对更常见的先天性代谢缺陷(如苯丙酮尿症)的治疗方案应该很重要。