Consensus on screening, diagnosis and treatment of multiple acyl-CoA dehydrogenase deficiency
10.3760/cma.j.cn511374-20200829-00630
- VernacularTitle:多种酰基辅酶A脱氢酶缺乏症的筛查与诊治共识
- Author:
Xiaohong CHEN
;
Yun SUN
;
Yanling YANG
;
Lianshu HAN
;
Xinwen HUANG
- Keywords:
Multiple acyl-CoA dehydrogenase deficiency;
Glutaricacidemia type Ⅱ;
Neonatal screening;
Tandem mass spectrometry
- From:
Chinese Journal of Medical Genetics
2021;38(5):414-418
- CountryChina
- Language:Chinese
-
Abstract:
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 2 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.
