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《Journal of Applied Clinical Pediatrics》 2012-20
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Screening of Inherited Metabolic Disorders in High-Risk Infants Using Urease Pretreatment-Gas Chromatography-Mass Spectrometry

GAO Ping-ming1,HAO Hu1,2,LI Si-tao1,LIU Bing-qing1,LIU Meng-xian1,LI Wen-li2,XIAO Xin1,2(1.Department of Pediatrics,the Sixth Affiliated Hospital of Sun Yat-Sen University,Guangzhou 510655,Guangdong Province,China;2.Laboratory of Inherited Metabolic Disorders,the Sixth Affiliated Hospital of Sun Yat-Sen University,Guangzhou 510655,Guangdong Province,China)  
Objective To detect the incidence of inherited metabolic disorders(IMD) and disorders of metabolism in high-risk infants,and to provide basis for clinical diagnosis by using urease pretreatment-gas chromatography-mass spectrometry(UP-GC-MS). Methods Urine samples from high-risk infants of IMD were collected,and they were decomposed with urease,and heptadecanoic acid was added as an internal standard,protein was denaturated with ethanol and precipitate was removed by centrifugation,evaporation was performed to dryness,the residue was trimethylsilylly derivatized with bis(trimethylsilyl) trifluoroacetamide/trimethyl-chlorosilane.GC-MS was used to analyze compositions such as organic acids,amino acids,carbohydrates,pyridoxines,purines and pyrimidines. Results Eight hundred and ninety cases of metabolic disorders were found in 1 330 high-risk infants(66.9%),including 21 diagnosed cases(1.6%) of inherited metabolic disorders(which included 8 cases of methylmalonic aciduria,3 cases of hyperphenylalaninemia,2 cases of abnormal urea cycle,galactosemia,maple syrup urine disease,isovaleric acidemia and propionic academia,respectively).There were 49 suspected cases(3.7%) of IMD,including tyrosinemia(23 cases),abnormal urea cycle(8 cases),fatty acid metabolic disorders(12 cases) and Citrin defects(6 cases).In particular,4 cases of the above were diagnosed accurately by tandem mass spectrometry(MS-MS) and genetic analysis.There were 40 cases(3.0%) of non-inherited metabolic disorders(28 cases of lactic acidosis and 12 cases of glycerol aciduria).There were also 780 cases of metabolic disorders(58.6%),such as increasing urine levels of galactose,4-hydroxy phenyl lactic acid,N-acetyl tyrosine,lactic acid,lactose,succinic acid,ketodicarboxylic,and abnormal serine/threonine ratio. Conclusions UP-GC-MS is an effective method to diagnose IMD and disorders of metabolism in pediatrics.If necessary,MS-MS and/or gene analysis can be combined when diagnosing metabolic disorders if necessary.
【Fund】: 中山大学“百人计划”人才基金项目(20071153);; 中山大学青年基金项目(20110739)
【CateGory Index】: R725.8
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1 SONG Yuan-zong1,KOBAYASHI Keiko2(1.Department of Pediatrics,the First Affiliated Hospital,Jinan University,Guangzhou 510630,Guangdong Province,China;2.Department of Molecular Metabolism and Biochemical Genetics,Kagoshima University Graduate School of Medical and Dental Sciences,Kagoshima 890-8544,Japan);Neonatal Intrahepatic Cholestasis Caused by Citrin Deficiency[J];Journal of Applied Clinical Pediatrics;2010-20
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