多种酰基辅酶A脱氢酶缺乏症的筛查与诊治共识

Consensus on screening,diagnosis and treatment of multiple acyl-CoA dehydrogenase deficiency

多种酰基辅酶A脱氢酶缺乏症(multiple acyl-CoA dehydrogenase deficiency,MADD)又称戊二酸血症Ⅱ型,是一种较为常见的脂肪酸氧化代谢紊乱,临床表现高度异质,从新生儿期至成年期均可发病。新生儿期发病者症状重,有致死性。迟发型者常有脂质沉积性肌病以及呕吐、肝病、脑病等表现。采用串联质谱技术进行血液酰基肉碱谱分析可进行新生儿筛查及高危筛查,迟发型MADD维生素B2治疗效果较好。本共识旨在规范MADD的筛查、诊断与治疗,以改善患者预后,减少死亡和残疾。

Multiple acyl-CoA dehydrogenase deficiency(MADD),also known as glutaricacidemia typeⅡ,is a relatively common disorder of fatty acid oxidation metabolism.The clinical manifestations are highly heterogeneous,symptoms can develop from newborn to adulthood.Neonatal onset type is more serious with high mortality.The symptoms of late onset patients include lipid deposition myopathy and vomiting,liver disease,and encephalopathy.Analysis of blood acyl carnitine spectrum by tandem mass spectrometry can be used for the screening.Late onset patients have relatively good prognosis with vitamin B2 treatment.The purpose of this consensus is to standardize the diagnosis,treatment and management of MADD,so as to improve the prognosis of patients and reduce death and disability.