枫糖尿症1例临床特点及相关基因突变特点分析  

Analysis of clinical characteristics and related gene mutation characteristics in a case of maple syrup urine disease

作　　者：汤欣欣[1] 郑芹[1] 刘双[1] 赵亚丽 顾莹[1] 王雷雷[1] Tang Xinxin;Zheng Qin;Liu Shuang;Zhao Yali;Gu Ying;Wang Leilei(Genetic Laboratory,Lianyungang Maternal and Child Health Hospital,Lianyungang 222000,Jiangsu Province,China)

机构地区：[1]连云港市妇幼保健院遗传实验室,222000

出　　处：《中华实用儿科临床杂志》2020年第20期1586-1588,共3页Chinese Journal of Applied Clinical Pediatrics

基　　金：江苏省妇幼健康科研项目(F201756);江苏省社会发展面上项目(BE2018677)。

摘　　要：回顾性分析1例经典型枫糖尿症患儿的临床特点及基因突变特点。患儿,男,出生7 d出现不明原因拒奶,反应差,口吐白沫,同时出现脑病症状。血串联质谱提示总亮氨酸浓度异常升高,尿气相色谱/质谱结果提示2-羟基异戊酸、2-酮-异戊酸、2-酮-3-甲基戊酸、2-酮-异己酸均明显增高,基因检测结果显示BCKDHB基因c.1028delC(p.S343Lfs*9)纯合突变。了解该病的临床症状及基因突变特点,有助于该疾病的早发现、早诊断,以最大程度改善该疾病的预后。The clinical characteristics and gene mutation characteristics of a child with typical maple syrup urine disease were analyzed retrospectively.The child is a boy,who showed unexplained milk refusal,poor reaction,foaming at the mouth,and encephalopathy symptoms 7 days after birth.The total leucine concentration was abnormally increased by blood tandem mass spectrometry,and the results of urine gas chromatography/mass spectrometry suggested that the concentrations of 2-hydroxy isovaleric acid,2-keto isovaleric acid,2-keto-3-methylpentanoic acid and 2-keto-isohexanoic acid were significantly increased.The gene detection results showed that c.1028delC(p.S343Lfs*9)homozygous mutation was found in the BCKDHB gene.Understanding the clinical symptoms and gene mutation characteristics of this disease can help with the early detection and early diagnosis of this disease,so as to improve its prognosis to the greatest extent.

关 键 词：枫糖尿症 基因突变分析 BCKDHB基因 遗传代谢性疾病 

分 类 号：R725.8[医药卫生—儿科]