title: Screening for inborn errors of metabolism using gas chromatography-mass spectrometry.
abstract: Screening of newborns for inborn errors of metabolism (IEM) in China is both a challenging and undeveloped area for gynecologists and pediatricians. Since 1999, the Capital Institute of Pediatrics has been studied as regards screening for IEM using advanced gas chromatography-mass spectrometry (GC-MS) method in collaboration with the Matsumoto Institute of Life Science (MILS), Japan, and has successfully diagnosed 51 cases of IEM in a total of 393 patients. Galactosemia, phenylketonuria and methylmalonic acidemia were the most frequent disorders among 51 cases of IEM. Treatment by suitable drugs and/or diet therapy was very effective in the most cases.
authors.affiliation: Capital Institute of Pediatrics, Beijing, PR China. xdcui@public.intercom.com.cn
authors.forename: K
authors.initials: K
authors.lastname: Xu
authors.forename: L
authors.initials: L
authors.lastname: Wang
authors.forename: H
authors.initials: H
authors.lastname: Cai
authors.forename: T
authors.initials: T
authors.lastname: Zhang
authors.forename: C
authors.initials: C
authors.lastname: Zhang
authors.forename: I
authors.initials: I
authors.lastname: Matsumoto
mesh_terms: D008401:Gas Chromatography-Mass Spectrometry / Q000379:methods*; D006801:Humans; D007223:Infant; D008297:Male; D008661:Metabolism, Inborn Errors / Q000175:diagnosis* / Q000652:urine