戊二酸尿症Ⅰ型1例临床和基因突变分析  

Clinical feature and genetic variation analysis of glutaric aciduria type Ⅰ in a child

作　　者：崔清洋[1] 孙薇薇 逯军[1] CUI Qingyang;SUN Weiwei;LU Jun(Affiliated Haikou Hospital of Xiangya Medical College, Central South University, Haikou 580208, Hainan, China)

机构地区：[1]中南大学湘雅医学院附属海口医院

出　　处：《临床儿科杂志》2019年第7期545-548,共4页Journal of Clinical Pediatrics

摘　　要：目的 探讨戊二酸尿症Ⅰ型的基因突变特点。方法 回顾分析1例戊二酸尿症Ⅰ型患儿的临床资料及基因检测结果。结果 女性患儿,1岁11个月,主要表现为腹泻及抽搐。血戊二酰肉碱水平(0.78μmol/L)及尿戊二酸显著增高。二代测序发现GCDH基因两处变异,c.271+1G>A(IVS4+1G>A),为父源性剪切变异;c.938G>A为母源性错义变异。两处变异的致病性均已有文献报道,但均是国内首次报道。结论 扩充了国内戊二酸尿症Ⅰ型的基因突变谱。Objective To explore the characteristics of gene mutation of glutaric aciduria typeⅠ. Method The clinical data and gene test results of glutaric aciduria type Ⅰ in a child were retrospectively analyzed. Results A 1-year-11-monthold girl presented with diarrhea and convulsion. The patient had an elevated glutaryl carnitine level of 0.78 μmol/L and high urinary excretion of glutaric acid. Two pathogenic mutations in the GCDH gene were identified by second-generation sequencing. The splicing mutation of c.271+1G>A(IVS3+1G>A)is inherited from her father, while the missense mutation of c.938G>A is inherited from her mother. Pathogenicity of the two mutations has been already reported before, but it was first reported domestically. Conclusion The gene mutation spectrum of glutaric aciduria typeⅠ in China has been expanded.

关 键 词：戊二酸尿症Ⅰ型 戊二酰辅酶A脱氢酶 基因 血串联质谱 尿气相色谱质谱 

分 类 号：R725.8[医药卫生—儿科]