非酮性高甘氨酸血症研究进展  

Advances in nonketotic hyperglycinemia

作　　者：程俊丽(综述) 王静[1] 郑荣秀(审校)[1] Cheng Junli;Wang Jing;Zheng Rongxiu(Department of Pediatrics,General Hospital of Tianjin Medical University,Tianjin 300052,China)

机构地区：[1]天津医科大学总医院儿科,300052

出　　处：《国际儿科学杂志》2023年第7期452-455,共4页International Journal of Pediatrics

基　　金：天津市医学重点学科(专科)建设项目(TJYXZDXK-068C)。

摘　　要：非酮性高甘氨酸血症(nonketotic hyperglycinemia,NKH),又称甘氨酸脑病,是一种罕见的致死性常染色体隐性遗传病,是由于甘氨酸裂解系统活性不足,使甘氨酸分解障碍而在体内蓄积,导致神经系统进行性损伤。该病临床表现不一,根据临床结局分为重症型NKH和轻型NKH。脑脊液甘氨酸水平升高为其特征性表现,进一步的确诊需要基因检测及酶活性检测。目前该病缺乏有效的治疗手段且整体预后差,常用苯甲酸钠、N-甲基-D天冬氨酸受体拮抗剂治疗。该文就NKH的研究进展进行综述,旨在帮助临床医生全面识别NKH,并采取积极措施,以获得最佳治疗结果。Nonketotic hyperglycinemia(NKH),also known as glycine encephalopathy,is a rare and life-threatening autosomal recessive disease.Due to the insufficient activity of the glycine cleavage enzyme system(GCS),glycine can not be degraded and accumulates in the body.It leads to progressive damage to the nervous system.The clinical manifestations of the disease vary.Based on ultimate outcome,NKH is categorized into severe NKH and attenuated NKH.It is characterized by increased glycine level in cerebrospinal,and further confirmatory tests are molecular genetic testing and enzymatic testing.So far,no causal treatment of NKH has been discovered and the overall prognosis is still poor.The therapy is based on sodium benzoate and N-methyl-D-aspartate(NMDA)receptor site antagonists.This article reviews the progress of NKH,in order to help clinicians comprehensively identify NKH and take proactive measures to get the best results.

关 键 词：婴儿 非酮性高甘氨酸血症 甘氨酸脑病 甘氨酸裂解系统 

分 类 号：R725.9[医药卫生—儿科]