Unignorable late-onset inborn errors of metabolism of the nervous system
10.3760/cma.j.issn.1006-7876.2019.01.002
- VernacularTitle:不可忽视的晚发型神经系统遗传代谢病
- Author:
Yuying ZHAO
1
;
Chuanzhu YAN
Author Information
1. 山东大学齐鲁医院神经内科
- Keywords:
Inborn error of metabolism;
Late-onset;
Nervous system;
Diagnosis;
Therapy
- From:
Chinese Journal of Neurology
2019;52(1):4-7
- CountryChina
- Language:Chinese
-
Abstract:
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.
