摘要
遗传代谢病(inborn errors of metabolism,IEMs)是指维持机体正常代谢所必需的多肽或蛋白构成的酶、受体、跨膜转运载体、神经递质及其相关辅因子等发生遗传缺陷而导致的一组疾病,任何年龄均可发病,常以1岁为界分为早发型和晚发型。目前明确报道的IEMs已有近千种之多,其中有80%以上会出现神经系统受累的症状和体征,也称神经系统遗传代谢病,而晚发型的患者往往首先就诊的是神经内科。IEMs的治疗目标是纠正代谢缺陷,主要治疗原则包括限制缺陷酶底物的摄入、酶替代治疗、促进毒性代谢产物排出、辅因子治疗、基因治疗和对症支持处理等。一大部分IEMs病种可防可控,若及早发现、正确干预,患者甚至可以无病健康生存,所以加强神经内科医生对晚发型神经系统遗传代谢病的认识至关重要。
Inborn errors of metabolism (IEMs) are defined as genetically enzymatic deficiencies or defects in polypeptide or protein involved in cellular metabolism, which include nearly a thousand kinds of genetic-definite disease entities up to now and could develop symptoms and signs at any age, and those whose onset-age is more than 1 years old are named as late-onset IEMs. More than 80% of IEMs could involve the nervous system, also called IEMs of the nervous system, and most of the late-onset IEM patients will go to the Deparment of Neurology firstly. The treatment aim of IEMs is to correct the metabolic deficiency. The main therapeutic strategies include substrate-limitted intake, enzyme replacement therapy, clearance of the toxic metabolites, cofactor supplement, gene therapy and sympatomatic and support treatment. Many kinds of late-onset IEMs of the nervous system are treatable, and could be healthy living if treated early and correctly. Therefore, it is important to strengthen the understanding of neurologists on the late IEMs of the nervous system, which should not be ignored.
作者
赵玉英
焉传祝
Zhao Yuying;Yan Chuanzhu(Department of Neurology,Qilu Hospital of Shandong University,Jinan 250012,China)
出处
《中华神经科杂志》
CAS
CSCD
北大核心
2019年第1期4-7,共4页
Chinese Journal of Neurology
基金
国家自然科学基金面上项目(81671235).
关键词
遗传代谢病
晚发型
神经系统
诊断
治疗
Inborn error of metabolism
Late-onset
Nervous system
Diagnosis
Therapy
