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遗传性代谢病属先天性缺陷,一般由于催化代谢反应的特异性酶的结构基因发生突变而引起.绝大多数为酶活性减低,导致有关代谢反应阻滞,产生代谢物贮积;最终代谢产物减少,甚或缺如,或产生大量在正常状态下仅生成微量的代谢产物以及通过异常代谢途径生成异常代谢产物等.这些异常代谢产物如果影响组织或脏器的正常生理功能,就会产生临床症状.由于近代基础科学迅速发展,遗
Hereditary metabolic disease is a congenital defect, usually due to the structural changes of the specific enzyme catalytic metabolic reactions caused mutations in the vast majority of enzyme activity decreased, leading to the metabolic reaction block, resulting in metabolite storage; final metabolites Reduce or even absent, or produce a large amount of normal production of trace metabolites and abnormal metabolic pathways to generate abnormal metabolites, etc. These abnormal metabolites if the normal physiological function of tissues or organs, will have clinical symptoms Due to the rapid development of modern basic science, legacy