Rennert O M
Ann Clin Lab Sci. 1980 Jul-Aug;10(4):356-60.
As a consequence of investigations on the pathogenesis of an inborn error of metabolism characterized by increased urinary and plasma levels of methylmalonic acid, the metabolism of vitamin B12 and its functional roles have become elucidated. Four human mutations have been identified in which a defect in the metabolism of deoxyadenosinecobalamin or methylcobalamin occurs. These investigations have highlighted the functional significance of co-factors or coenzymes in the maintenance of health and have identified new approaches for the treatment of genetic diseases involving the use of pharmacologic doses of vitamins.
作为对一种以尿和血浆中甲基丙二酸水平升高为特征的先天性代谢缺陷发病机制进行研究的结果，维生素B12的代谢及其功能作用已得到阐明。已鉴定出四种人类突变，其中脱氧腺苷钴胺素或甲钴胺素的代谢存在缺陷。这些研究突出了辅因子或辅酶在维持健康方面的功能意义，并确定了涉及使用药理剂量维生素治疗遗传疾病的新方法。
