title: [Selective screening of inborn errors of metabolism by using the tandem mass spectrometry: pilot study of 552 children at high risk].
abstract: OBJECTIVE
  To study the application of tandem mass spectrometry (MS/MS) in the selective screening of inborn errors of metabolism (IEM) in high risk children and to understand the positive rate and types of IEM.
  
  
  METHODS
  MS/MS was used to examine 552 blood samples from high risk cases of IEM who came from 8 hospitals in Shijiazhuang, Hebei Province.
  
  
  RESULTS
  Sixty-four children (11.6%) were confirmed with IEM by the MS/MS, including 33 cases of methylmalonic acidemia or propionic acidemias, 2 cases of phenylketonuria, 3 cases of carnitine palmotoyl transferase I deficiency, 1 case of long-chain acyl-CoA dehydrogenase deficiency, 2 cases of medium-chain acyl-CoA dehydrogenase deficiency, 6 cases of maple syrup urine disease, 2 cases of short-chain acyl-CoA dehydrogenase deficiency, 2 cases of glutaric acidemia type I, 2 cases of isovaleric acidemia, 2 cases of homocystinuria, 4 cases of carnitine deficiency, 1 case of tyrosinemia, 1 case of argininosuccinic aciduria, 2 cases of citrullinemia and 1 case of argininemia.
  
  
  CONCLUSIONS
  MS/MS can be used to screen and classify IEM.
authors.affiliation: Department of Pediatrics, Hebei Provincial Hospital, Shijiazhuang, Hebei 050051, China. louyanchina@yahoo.com.cn
authors.forename: Yan
authors.initials: Y
authors.lastname: Lou
authors.forename: Na
authors.initials: N
authors.lastname: Yin
authors.forename: Feng-Qin
authors.initials: FQ
authors.lastname: Chen
authors.forename: Ya-Ying
authors.initials: YY
authors.lastname: Cheng
authors.forename: Li-Jin
authors.initials: LJ
authors.lastname: Xu
authors.forename: Fang
authors.initials: F
authors.lastname: Dai
authors.forename: Xiao-Tao
authors.initials: XT
authors.lastname: Song
mesh_terms: D002648:Child; D002675:Child, Preschool; D005260:Female; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D008661:Metabolism, Inborn Errors / Q000175:diagnosis*; D010865:Pilot Projects; D012306:Risk; D053719:Tandem Mass Spectrometry / Q000379:methods*