文本框: HIGH RISK SCREENING FOR INBORN ERROR OF METABOLISM USING GAS CHROMATOGRAPHY MASS SPECTROMETRY (GC/MS) Xu KM1, Wang LW1, Zhang CH2, Isumu Matsumoto2 1Capital Institute of Pediatrics, Beijing, China 2Masumoto Institute of Life Science, Japan Objective: To conduct screening of inborn error of metabolism (IEM) by analyzing urinary organic compounds and to give suitable therapy in 803 infants suspected to having IEM. Methods: All of the 803 patients' urine were collected by filter paper set and sent to Japan, where the urinary organic compounds was analyzed using Gas Chromatography Mass Spectrometry (GC/MS), and chemical diagnosis for IEM was done. Results: 76 cases with abnormality urinary profile were found, 11 cases each of galactosemia and phenylketonuria, 10 cases of methylmalonic acidemia, 2 cases each of glutaric aciduria ,lysineuria and homoserinuria (?), 1 case each of fructose-1, 6-diphosphatas deficiency, pyrogiutaminuria, neuroblastoma long-chain fatty acetyl coA dehydrogenase deficiency, multiple carboxylase deficiency, ornithine transcarbamylase dificiency and citrulinemia, 3 cases of Fanconi Syndrom and 28 cases of others. Good effects were obtained in half of mentioned patients after treating. Conclusion: (1) Screening of IEM should be accepted in infants with mental-motor retardation of unknown cause. (2) The GC/MS analysis method is an accurate, sensible and specific method for screening IEM. 0968