Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics · 2021
[Consensus on screening, diagnosis and treatment of multiple acyl-CoA dehydrogenase deficiency].
СтатьяConsensus StatementНазвание и аннотация: Перевод пока не подготовлен
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Division Of Genetics And Metabolomics Child Diseases And Health Care Branch Chinese Association For Maternal And Child Health, Chen Xiaohong, Sun Yun, Yang Yanling, Han Lianshu, Huang Xinwen
Аннотация
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.