title: [Application of tandem mass spectrometry on the diagnosis of fatty acid oxidation disorders].
abstract: OBJECTIVE
  To screen and diagnose fatty acid oxidation disorders (FAOD) in high risk children with inborn error of metabolism using tandem mass spectrometry.
  
  
  METHODS
  The study group consisting of 2941 high risk cases of suspected inborn error of metabolism was tested. The acylcarnitines in the dry blood filter papers of patients were tested by tandem mass spectrometry. The diagnosis of FAOD was according to the levels of the acylcarnitines, the clinical symptoms, and other biochemistry study.
  
  
  RESULTS
  Fourteen patients were diagnosed as FAOD. These patients included one carnitine palmitoyltransferase deficiency I, one carnitine palmitoyltransferase deficiency II, one short-chain acyl-CoA dehydrogenase deficiency, seven medium-chain acyl-CoA dehydrogenase deficiency, two very long-chain acyl-CoA dehydrogenase deficiency, and two multiple acyl-CoA dehydrogenase deficiency.
  
  
  CONCLUSIONS
  FAOD are not rare in China. Analysis of acylcarnitines levels tested by tandem mass spectrometry is helpful to diagnose FAOD.
authors: Department of Pediatric Endocrinology and Genetic Metabolism, Shanghai Institute for Pediatric Research, Xinhua Hospital, Shanghai Jiaotong University School of Medical, Shanghai, 200092 PR China.
authors: Lian-shu
authors: LS
authors: Han
authors: Jun
authors: J
authors: Ye
authors: Wen-juan
authors: WJ
authors: Qiu
authors: Xiao-lan
authors: XL
authors: Gao
authors: Yu
authors: Y
authors: Wang
authors: Yong-jun
authors: YJ
authors: Zhang
authors: Xue-fan
authors: XF
authors: Gu
mesh_terms: D000293:Adolescent; D000592:Amino Acid Metabolism, Inborn Errors / Q000175:diagnosis / Q000235:genetics; D002331:Carnitine / Q000031:analogs & derivatives* / Q000737:chemistry; D002648:Child; D002675:Child, Preschool; D005260:Female; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D050356:Lipid Metabolism / Q000502:physiology; D008052:Lipid Metabolism, Inborn Errors / Q000175:diagnosis*; D008297:Male; D013058:Mass Spectrometry; D053719:Tandem Mass Spectrometry / Q000379:methods*
chemical_list: C116917:acylcarnitine; D002331:Carnitine