Screening analysis of 4 710 cases of inherited metabolic diseases in high - risk infants using urease pretreat-ment-gas chromatography-mass spectrometry
10.3760/cma.j.issn.2095-428X.2015.21.017
- VernacularTitle:遗传性代谢病高危婴幼儿4710例尿素酶预处理-气相色谱-质谱技术筛查分析
- Author:
Hu HAO
;
Sitao LI
;
Xuejun OUYANG
;
Suzhen FANG
;
Hekui LAN
;
Chunhua ZHANG
;
Congcong SHI
;
Xin XIAO
- Publication Type:Journal Article
- Keywords:
Inherited metabolic diseases;
Urease pretreatment - gas chromatography - mass spectrometry;
High - risk infants
- From:
Chinese Journal of Applied Clinical Pediatrics
2015;(21):1660-1662
- CountryChina
- Language:Chinese
-
Abstract:
Objective To detect the incidence of inherited metabolic diseases(IMD)and disorders of metabo-lism in 4 710 high - risk infants,as well as providing basis of clinical diagnosis and treatment by using urease pretreat-ment - gas chromatography - mass spectrometry(UP - GC - MS). Methods Samples were collected from high - risk infants with IMD,after removing urea,putting in internal standard,removing protein,vacuum drying and bis (trimethyl - silyl)trifluoroacetamide / trimethyl - chlorosilane derivativing,UP - GC - MS was used to analyze compo-sitions such as organic acids,amino acids,carbohydrates,pyridoxines,purines and pyrimidines,then metabolic analysis was proceeded to refer to the normal detection value of the healthy children,finally a metabolic diagnosis was made ba-sing on the clinical data such as the high - risk clinical manifestations and general biochemical tests and other special examinations. Results In the 4 710 cases,there were 98 cases of IMD(2. 1% ),326 cases of suspected IMD(6. 9% ), 2 610 cases of metabolic disorders(55. 4% ). There were 98 cases of IMD,including 57 cases of methylmalonic aciduria,12 cases of propionic acidemia,7 cases of glutaric aciduria,5 cases of hyperphenylalaninemia,maple syrup u-rine disease and multiple carboxylase defects each,4 cases of isovaleric acidemia and 3 cases of 4 - hydroxy butyric acid urine disease. Conclusions UP - GC - MS is a effective way to diagnose IMD and metabolic disorders of infants. Common IMD in Guangdong Province include methylmalonic aciduria,propionic academia,glutaric aciduria,hyperphe-nylalaninemia,maple syrup urine disease and multiple carboxylase defects. The results of the tests can provide effective guidance for diagnosis and treatment of suspected infants.
