摘要
遗传代谢病是一组以生化代谢异常为特征的单基因遗传病。癫痫发作是遗传代谢病常见的临床表现之一。已知至少5%的癫痫患者是由于遗传代谢病导致。各种各样的小分子代谢病(氨基酸、有机酸、糖、脂肪酸、金属、维生素、神经递质相关代谢障碍)和细胞器代谢病(线粒体、溶酶体、过氧化物酶体)均可表现为癫痫发作或癫痫综合征。遗传代谢病患者临床表现无特异性,生化检测和基因分析是诊断的主要工具。一些代谢性癫痫经过治疗可能减轻症状和改善预后。本文概述了代谢性癫痫的临床特点、辅助检查和治疗。
Inherited metabolic diseases are a group of single-gene genetic diseases characterized by abnormal biochemical metabolism.Seizures are one of the common clinical manifestations of inherited metabolic diseases.More than 5%of the patients with epilepsy have metabolic etiology.These may include metabolic errors in small molecules involved in amino acid and glucose metabolism,metal metabolism,vitamin metabolism,neurotransmitters-related metabolic disorders,or organelles diseases in mitochondria and lysosomes,which present with seizures or epileptic syndrome.Because these patients have no specific clinical manifestations,biochemical and genetic analysis are the main tools for diagnosis.Here we review the clinical features auxiliary examinations and treatment of metabolic epilepsy.Some cases of metabolic epilepsy may have improved symptoms and better prognosis after treatment.
作者
莫若
杨艳玲
张尧
MO Ruo;YANG Yan-ling;ZHANG Yao(Department of Pediatrics,Peking University First Hospital,Beijing 100034,China)
出处
《中国实用儿科杂志》
CSCD
北大核心
2020年第7期506-510,共5页
Chinese Journal of Practical Pediatrics
基金
国家重点研发计划[2017YFC1001700
2019YFC1005100]。
关键词
遗传代谢病
癫痫
癫痫综合征
inherited metabolic diseases
epilepsy
epilepsy syndrome
