遗传代谢病治疗进展

遗传代谢病是一组以代谢通路异常为特征的单基因遗传病。随着新生儿代谢筛查的普及,越来越多的遗传代谢病得到及时的诊断和救治。根据遗传代谢病的发病机制,其治疗包括减少底物、清除毒性代谢产物、酶替代治疗、增强酶活性疗法、细胞或器官移植及基因治疗等。许多代谢病得到一定的改善,甚至治愈。但是仍然有一些治疗方法处于研究阶段,许多代谢病亟待更为有效的治疗。产前诊断是预防遗传代谢病的有效方法。

Progress in the treatment of inborn errors of metabolisms

Inborn errors of metabolisms (IEMs) are a group of single-gene genetic diseases,characterized by abnormal metabolic pathways.With the popularization of neonatal metabolic screening,more and more IEMs are diagnosed and treated in time.According to the pathogenesis of IEMs,the treatment includes the reduction of substrates,removal of toxic metabolites,enzyme replacement therapy,enhancement of enzyme activity,cell or organ transplantation,and gene therapy.Therefore,many IEMs have been improved or even cured.However,some therapies are still in the stage of research,and more effective treatments are warranted.Prenatal diagnosis is an effective method to prevent IEMs.