[Application of tandem mass spectrometry on the diagnosis of fatty acid oxidation disorders].
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.
Han
Lian-shu
LS
Department of Pediatric Endocrinology and Genetic Metabolism, Shanghai Institute for Pediatric Research, Xinhua Hospital, Shanghai Jiaotong University School of Medical, Shanghai, 200092 PR China.
Ye
Jun
J
Qiu
Wen-juan
WJ
Gao
Xiao-lan
XL
Wang
Yu
Y
Zhang
Yong-jun
YJ
Gu
Xue-fan
XF
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*
C116917:acylcarnitine; D002331:Carnitine