%0 Journal Article
%T [Consensus on screening, diagnosis and treatment of multiple acyl-CoA dehydrogenase deficiency].
%A Division Of Genetics And Metabolomics Child Diseases And Health Care Branch Chinese Association For Maternal And Child Health 
%A Chen X
%A Sun Y
%A Yang Y
%A Han L
%A Huang X
%J Zhonghua Yi Xue Yi Chuan Xue Za Zhi
%V 38
%N 5
%D May 2021 10
%M 33974246
暂无%R 10.3760/cma.j.cn511374-20200829-00630
%X 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 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.