中国医学前沿杂志（电子版）2025，Vol.17Issue(6)：63-69,7.DOI:10.12037/YXQY.2025.06-10
电子转移黄素蛋白脱氢酶基因变异致晚发型戊二酸血症Ⅱ型1例并文献复习
A case of late-onset glutaric acidemia type Ⅱ caused by ETFDH gene mutation and literature review
摘要
Abstract
Objective To explore the clinical and genetic features of late-onset glutaric acidemia type Ⅱ(GA Ⅱ)caused by electron transfer flavoprotein dehydrogenase(ETFDH)gene mutations.Methods A retrospective analysis was conducted on a late-onset GA Ⅱ patient admitted to the affiliated Capital Center for Children's Health,Capital Medical University.Clinical features and genetic testing results were reviewed.Additionally,related literatures published between 2019 and 2024 were retrieved from PubMed,China National Knowledge Infrastructure(CNKI),and Wanfang databases using keywords such as"glutaric acidemia type Ⅱ""ETFDH gene".The search strategy combined MeSH terms and free-text words to filter relevant studies.Clinical presentations were then summarized.Results The patient was a 4-month-old male,presenting with upright head instability and drowsiness for 8 days.Breastfeeding after birth,developmental lag,healthy parents,denial of family genetic disease and infectious history.The child had poor response to treatment and developed organ dysfunction and respiratory failure.The results of genetic testing indicated that the ETFDH gene(NM_004453.2)had Ex.1-Ex.6del and c.1531G＞C(p.D511H)complex heterozygous variation.The American college of medical genetics and genomics,(ACMG)guidelines determined that the mutation site in this patient was a suspected pathogenic mutation.A total of 11 literatures were reviewed,including 25 patients under 18 years old with onset of the disease,including 6 patients with early-onset,and 4 patients(66.7％)showed hypoglycemia or metabolic acidosis.There were 19 late-onset patients,and including the case reported in this article,there were a total of 20 cases,13 patients(65.0％)showed myalgia,decreased exercise endurance or nausea and vomiting,and 5 patients(25.0％)showed only abnormal metabolic screening without obvious clinical manifestations.In 14 Chinese patients,including this case,a total of 16 ETFDH gene mutation sites were detected,c.250G＞A was the most common mutation site,and c.1531G＞C mutation in this case was reported for the first time.Conclusions GA Ⅱ lacks typical clinical features.When children present with unexplained developmental delay,myalgia,motor disorders,nausea,vomiting,or metabolic abnormalities,GA Ⅱ should be considered.Genetic testing can be a clear diagnosis.关键词
ETFDH基因/戊二酸血症Ⅱ型/临床表型/遗传学检测Key words
ETFDH gene/Glutaric acidemia type Ⅱ/Clinical phenotype/Genetic testing引用本文复制引用
程沛迪,吴凡,申梦瑶,沈梦晓,郑萍,吴欢欢,谢丽娜,陈倩..电子转移黄素蛋白脱氢酶基因变异致晚发型戊二酸血症Ⅱ型1例并文献复习[J].中国医学前沿杂志（电子版）,2025,17(6):63-69,7.基金项目
国家重点研发项目(2022YFC2703903) （2022YFC2703903）
吴阶平医学基金会临床科研专项(320.6750.2021-04-33) （320.6750.2021-04-33）
北京亦城合作发展基金会科研项目罕见病相关课题资助公益项目(YCXJ-JZ-2023-017) National Key Research and Development Program(2022YFC2703903) （YCXJ-JZ-2023-017）
Wu Jieping Medical Foundation Clinical Research Project(320.6750.2021-04-33) （320.6750.2021-04-33）
Beijing E-town Cooperation and Development Foundation(YCXJ-JZ-2023-017) （YCXJ-JZ-2023-017）
