中国全科医学2017，Vol.20Issue(17)：2159-2162,4.DOI:10.3969/j.issn.1007-9572.2017.17.025
新生儿枫糖尿病BCKDHB基因纯合突变一例报道并文献复习
Homozygous Mutation of BCKDHB Gene in Maple Syrup Urine Disease of Newborns:One Case Report and Literature Review
黄玉梅 1麦菁芸 1杨祖钦 1陈尚勤1
作者信息
- 1. 25000浙江省温州市,温州医科大学附属第二医院 育英儿童医院新生儿科
- 折叠
摘要
Abstract
Maple syrup urine disease(MSUD) is a metabolic disorder of branched chain amino acid due to hereditary defects of the branched chain α-ketoacid dehydrogenase(BCKD) complex.The incidence of MSUD is low in China,and early diagnosis is difficult and the prognosis is poor.The paper introduces the clinical data of 1 newborn with MSUD,makes a definite diagnosis in combination with cranial magnetic resonance imaging,magnetic resonance spectroscopy,blood tandem mass spectrometry,gene sequencing,and finds that a homozygous mutation of BCKDHB gene:c.254T>C(p.Leu85Ser) is the pathogenic mutation of this patient.Moreover,this mutation has not been reported previously.With related literature review,the paper hopes to provide references for the early diagnosis and treatment of neonatal MSUD.关键词
枫糖尿病/BCKDHB基因/DNA突变分析/磁共振波谱学Key words
Maple syrup urine disease/BCKDHB gene/DNA mutational analysis/Magnetic resonance spectroscopy分类
医药卫生引用本文复制引用
黄玉梅,麦菁芸,杨祖钦,陈尚勤..新生儿枫糖尿病BCKDHB基因纯合突变一例报道并文献复习[J].中国全科医学,2017,20(17):2159-2162,4.
