Abstract:

Multiple acyl-CoA dehydrogenase deficiency，also known as glutaric aciduria typeⅡ，is an autosomal recessive inherited metabolic disease. It is a mitochondrial electron transport chain and fatty acid metabolism disorder caused by a defect of electron transfer flavoprotein（ETF） or ETF dehydrogenase（ETFDH），resulting in the damage to multiple organs such as myocardia，liver，brain and skeletal muscle. The clinical diagnosis of multiple acyl-CoA dehydrogenase deficiency is difficult due to the lack of specific symptoms and signs of the patients. To make a definitive diagnosis，blood aminoacids and acylcarnitine profiles，urinary organic acids profiles and gene analysis are necessary. According to the response to riboflavin（or vitamin B2），multiple acyl-CoA dehydrogenase deficiency could be divided into riboflavin-responsive form and riboflavin-unresponsive form. The riboflavin-responsive form is usually observed in the late-onset cases with good outcome. The patients of riboflavin-unresponsive form usually have early-onset with severe diseases. Bezafibrate, L-carnitine，coenzyme Q10，sodium-D，L-3-hydroxybutyrate and low-fat die should be considered for the treatment. Some patients with riboflavin-unresponsive form show poor outcome.

Key words: multiple acyl-CoA dehydrogenase deficiency, glutaric aciduria type Ⅱ, riboflavin, bezafibrate

摘要：

多种酰基辅酶A脱氢酶缺乏症又称戊二酸尿症2型，是一种常染色体隐性遗传代谢病。由于编码线粒体电子转运黄素蛋白或电子转运黄素蛋白脱氢酶的基因缺陷导致线粒体电子传递链和脂肪酸代谢障碍，引起心肌、肝脏、脑、骨骼肌等多器官损伤。多种酰基辅酶A脱氢酶缺乏症患者缺乏特异性症状与体征，临床诊断困难，需要通过血液氨基酸肉碱谱、尿有机酸谱及基因分析明确诊断。根据患者对核黄素（或维生素B2）的反应，分为核黄素反应型与无反应型。核黄素反应型常为晚发型，治疗以核黄素为主，疗效良好。核黄素无反应型发病早，病情危重，治疗以苯扎贝特、左卡尼汀、辅酶Q10、3-羟基丁酸钠及低脂饮食等为主，一些患者预后不良。

关键词: 多种酰基辅酶A脱氢酶缺乏症, 戊二酸尿症2型, 核黄素, 苯扎贝特