多种酰基辅酶A脱氢酶缺乏症的诊治进展  

Progresses of diagnosis and therapy in multiple acyl-CoA dehydrogenase deficiency

作　　者：邢雅智(综述)[1] 邱文娟(审校)[1] 

机构地区：[1]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内分泌遗传代谢病研究室,200091

出　　处：《国际儿科学杂志》2010年第5期518-521,共4页International Journal of Pediatrics

基　　金：国家自然科学基金资助项目（30973216）;上海市教委科研创新项目（09YZ99）

摘　　要：多种酰基辅酶A脱氢酶缺乏症是一种较为常见的脂肪酸代谢紊乱,临床表现高度异质,常有呕吐、酸中毒以及脂质沉积性肌病表现,根据血多种酰基肉碱升高及尿中戊二酸等有机酸升高可明确诊断.新生儿发作型临床表现重,预后较差;核黄素治疗反应性患者给予核黄素治疗可完全纠正其临床症状及生化紊乱;核黄素无反应者应同时给予低脂、低蛋白、高碳水化合物饮食,并预防急性代谢紊乱的发作.Multiple acyl-CoA dehydrogenase deficiency （MADD） is a common inborn error of fatty-acid metabolism characterized by vomiting, acidosis and lipid storage myopathy, and the clinical manifestations of MADD are highly heterogeneous. MADD can be diagnosed by the elevation of multiple acyl-carnitine in blood and glutaric acid or other organic acid in urine. The neonatal-onset patients have severe symptoms and poor prognosis. However, oral riboflavin supplementation （can completely rescue） ameliorate the clinical and laboratory disorders rapidly especially to the riboflavin responsive MADD. Additionally, patients not sensitive to riboflavin should also take low lipid, low protein and high carbonhydrate diet besides riboflavin.

关 键 词：多种酰基辅酶A脱氢酶缺乏症 戊二酸血症Ⅱ型 电子转运黄素蛋白 电子转运黄素蛋白-泛醌氧化还原酶 

分 类 号：R972.6[医药卫生—药品]