title: The screening of inborn errors of metabolism in sick Chinese infants by tandem mass spectrometry and gas chromatography/mass spectrometry.
abstract: BACKGROUND
  Analyses of amino acid/acylcarnitines in dried blood spots (DBS) and organic acids in urine are the primary tests for inborn errors of metabolism (IEMs). Automated tandem mass spectrometry (MS/MS) and gas chromatography/mass spectrometry (GC/MS) can rapidly and simultaneously detect numerous metabolic compounds with high precision and sensitivity.
  
  
  METHODS
  Three thousand four hundred and twenty-nine DBSs and 2781 urine samples were collected from our hospital patients with suspected IEMs, and analyzed for amino acid/acylcarnitines and organic acids by MS/MS and GC/MS, respectively. The results were used in a coincidental survey to determine the efficacy of these methods for the diagnosis of IEMs.
  
  
  RESULTS
  Nineteen different types of IEMs were detected in 121 affected cases (1.95% of 6210 samples). There were 66.12% amino acid disorders, 29.75% organic acid disorders and 4.13% with fatty acid oxidation disorders.
  
  
  CONCLUSIONS
  the sick infants tested in this study had high prevalence rates of neonatal intrahepatic cholestasis, methylmalonic acidemia, hyperphenylalaninemia, tyrosinemia type I, and urea cycle disorders.
  
  
  CONCLUSIONS
  The combined use of MS/MS and GC/MS is an appropriate tool for screening of IEMs in sick infants.
authors.affiliation: Pediatric Institute, Children's Hospital of Fudan University, Shanghai, China. sunweihua3@yahoo.com.cn
authors.forename: Weihua
authors.initials: W
authors.lastname: Sun
authors.forename: Yi
authors.initials: Y
authors.lastname: Wang
authors.forename: Yi
authors.initials: Y
authors.lastname: Yang
authors.forename: Jianshe
authors.initials: J
authors.lastname: Wang
authors.forename: Yun
authors.initials: Y
authors.lastname: Cao
authors.forename: Feihong
authors.initials: F
authors.lastname: Luo
authors.forename: Wei
authors.initials: W
authors.lastname: Lu
authors.forename: Yongmei
authors.initials: Y
authors.lastname: Peng
authors.forename: Haili
authors.initials: H
authors.lastname: Yao
authors.forename: Penglin
authors.initials: P
authors.lastname: Qiu
mesh_terms: D000293:Adolescent; D000596:Amino Acids / Q000097:blood; D044466:Asian People; D002648:Child; D002675:Child, Preschool; D005227:Fatty Acids / Q000378:metabolism; D005260:Female; D008401:Gas Chromatography-Mass Spectrometry / Q000379:methods*; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D008661:Metabolism, Inborn Errors / Q000097:blood / Q000175:diagnosis* / Q000378:metabolism / Q000652:urine; D010084:Oxidation-Reduction; D053719:Tandem Mass Spectrometry / Q000379:methods*
chemical_list: D000596:Amino Acids; D005227:Fatty Acids