极长链酰基辅酶A脱氢酶缺乏症  

Very-long chain acyl coenzyme A dehydrogenase deficiency

作　　者：吕拥芬[1] 韩连书[2] LYU Yong-fen;HAN Lian-shu(Department of Endocrinology and Genetic Metabolism,Shanghai Children's Hospital,Shanghai Jiao Tong University,Shanghai 200062,China)

机构地区：[1]上海交通大学附属儿童医院 上海市儿童医院内分泌遗传代谢科,上海200062 [2]上海交通大学医学院附属新华医院 上海市儿科医学研究所小儿内分泌遗传科,上海200092

出　　处：《中国实用儿科杂志》2019年第1期25-29,共5页Chinese Journal of Practical Pediatrics

基　　金：上海交通大学"医工交叉基金"项目(YG2015MS39);国家重点研发计划(2016YFC0901505);上海市体育局科研项目(15Z028)

摘　　要：极长链酰基辅酶A脱氢酶缺乏症(VLCADD)是线粒体脂肪酸β氧化初始阶段的缺陷。其发病年龄可以从新生儿期到成年,症状包括低血糖、横纹肌溶解、骨骼肌无力和心肌病等,并可因长时间禁食或疾病诱发。早期诊断、治疗和监测可降低病死率。诊断评估方法最常见的是血浆酰基肉碱谱和ACADVL基因分子检测。如单独的分子测序不足以确定诊断或新发现具有未知临床相关性的突变时,功能测试包括白细胞、成纤维细胞酶分析是有用的辅助诊断。治疗包括避免长时间禁食,低长链脂肪高碳水化合物饮食,并辅以中链三酰甘油(MCT)。Very long chain acyl-CoA dehydrogenase deficiency(VLCADD)is a disorder involving the initial step of fatty acid beta-oxidation in the mitochondrial matrix. VLCADD can present at various ages,from the neonatal period to adulthood,with symptoms including hypoglycemia,rhabdomyolysis,skeletal muscle weakness and cardiomyopathy,and poses the greatest risk of complications during intercurrent illness or after prolonged fasting. Early diagnosis,treatment,and surveillance can reduce mortality. The most common diagnostic evaluation methods are plasma acylcarnitine profiles and ACADVL gene molecular testing. Functional testing,including white blood cell or fibroblast enzyme assay,is a useful diagnostic adjunct if molecular sequencing alone is insufficient to deter-mine the diagnosis or uncharacterized mutations are identified. Treatment emphasizes the avoidance of fasting and often includes a specialized diet that is high carbohydrate/low longchain fat which is supplemented by medium chain triglycerides(MCT).

关 键 词：极长链酰基辅酶A脱氢酶缺乏症 线粒体 中链三酰甘油 

分 类 号：R72[医药卫生—儿科]