Screening for inborn errors of metabolism using gas chromatography-mass spectrometry.
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.
Xu
K
K
Capital Institute of Pediatrics, Beijing, PR China. xdcui@public.intercom.com.cn
Wang
L
L
Cai
H
H
Zhang
T
T
Zhang
C
C
Matsumoto
I
I
D008401:Gas Chromatography-Mass Spectrometry / Q000379:methods*; D006801:Humans; D007223:Infant; D008297:Male; D008661:Metabolism, Inborn Errors / Q000175:diagnosis* / Q000652:urine