AMT基因突变致非酮性高甘氨酸血症家系的临床表型及遗传学分析一例  

Phenotypic and genetic analysis of a family with nonketotic hyperglycinemia caused by AMT gene mutation

作　　者：王静[1] 马云霞[1] 辛玥[1] 程俊丽 郑荣秀[1] 魏莹[1] Wang Jing;Ma Yunxia;Xin Yue;Cheng Junli;Zheng Rongxiu;Wei Ying(Department of Pediatrics,Tianjin Medical University General Hospital,Tianjin 300058,China)

机构地区：[1]天津医科大学总医院儿科,300058

出　　处：《中华神经科杂志》2021年第12期1299-1302,共4页Chinese Journal of Neurology

摘　　要：非酮性高甘氨酸血症(NKH)是一种罕见的先天性遗传代谢性疾病,临床上存在诊断率低的情况。文中报道1例AMT基因突变所致NKH病例,该患儿以疑似新生儿败血症起病,之后病情迅速恶化,出现呼吸暂停、呃逆、昏迷、惊厥等。查血糖、酮体、血气分析电解质、血氨等均大致正常。血、尿筛查结果提示甘氨酸水平稍高,脑脊液与血清甘氨酸浓度比增高。脑电图提示暴发抑制。高通量全外显子组测序结果检出存在AMT基因的母源外显子3 c.664C>T(p.Arg222Cys)致病变异,父源外显子3 c.793C>T(p.Arg265Cys)疑似致病变异,为常染色体隐性遗传复合杂合致病。现将该患儿的临床诊疗经过、基因突变特点进行总结。Nonketotic hyperglycinemia(NKH)is a rare congenital metabolic disorder with low diagnostic rate.This article reported a case of NKH caused by AMT gene mutation.The child started with suspected neonatal sepsis,and then the condition deteriorated rapidly,including apnea,hiccup,coma,convulsion,etc.Blood glucose,ketone body,blood gas analysis of electrolytes,blood ammonia and so on were generally normal.Blood and urine screening results showed that glycine was slightly higher,and the ratio of cerebrospinal fluid to serum glycine concentration increased.Electroencephalogram showed outburst suppression.High total exome sequencing results showed that the maternal exon 3 c.664C>T(p.Arg222Cys)of AMT gene was pathogenic,and the paternal exon 3 c.793C>T(p.Arg265Cys)was suspected to be pathogenic,which was an autosomal recessive genetic disease with complex heterozygosis.The clinical diagnosis and treatment of this child and the characteristics of gene mutation are summarized.

关 键 词：高甘氨酸血症 非酮性 AMT基因 基因突变 婴儿 

分 类 号：R725.8[医药卫生—儿科]