目前,遗传性酶病的研究取得了很大的成就。业已证实,体内酶合成的缺陷不仅是结构基因和调节基因突变的结果,也可由于翻译后修饰作用所致。1975年提出代谢调节差误的概念。据此,在许多疾病,尽管细胞内含有全酶、运转蛋白和受体蛋白,但由于关键代谢调节酶的变构机能障碍而使代 At present, great achievements have been made in the study of hereditary enzymopathy. It has been confirmed that the deficiency of in vivo enzyme synthesis is not only the result of structural gene and regulatory gene mutation, but also due to post-translational modification. In 1975, the concept of metabolic adjustment errors was proposed. Accordingly, in many diseases, although the cells contain holoenzymes, transport proteins, and receptor proteins, they are replaced by allosteric dysfunction of key metabolic regulators.