Chen Xiaohong, Sun Yun, Yang Yanling, Han Lianshu, Huang Xinwen
National Clinical Research Center for Child Health and Disease, Children's Hospital Affiliated to Zhejiang University School of Medicine, Hangzhou, Zhejiang, China.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2021 May 10;38(5):414-418. doi: 10.3760/cma.j.cn511374-20200829-00630.
Multiple acyl-CoA dehydrogenase deficiency (MADD), also known as glutaricacidemia type II, 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 B 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.
多种酰基辅酶A脱氢酶缺乏症（MADD），也称为II型戊二酸血症，是一种相对常见的脂肪酸氧化代谢紊乱疾病。其临床表现高度异质性，症状可从新生儿期至成年期出现。新生儿起病型病情更严重，死亡率高。晚发型患者的症状包括脂质沉积性肌病、呕吐、肝病和脑病。采用串联质谱法分析血酰基肉碱谱可用于筛查。晚发型患者接受维生素B治疗后预后相对较好。本共识的目的是规范MADD的诊断、治疗和管理，以改善患者预后，降低死亡和残疾率。
