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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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【Citations】
Chinese Journal Full-text Database 3 Hits
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
2 CHENG Jing,LIU Li,LI Xiu-zhen,MEI Hui-fen,FAN Chun(Department of Endocrinology,Guangzhou Women and Children′s Medical Center,Guangzhou 510623,Guangdong Province,China);Clinical Value of Galactitol Concentration in Urine Filter Paper Analyzed by Gas Chromatography-Mass Spectrometry in Screening Neonatal Intrahepatic Cholestasis Caused by Citrin Deficiency[J];Journal of Applied Clinical Pediatrics;2012-08
3 YING Yan-qin, LUO Xiao-ping;Progress in the clinical research into endocrine, genetic and metabolic diseases in children[J];Chinese Journal of Practical Pediatrics;2009-05
【Co-citations】
Chinese Journal Full-text Database 4 Hits
1 LI Tie-geng, LI Li, LI Long, et al (Department of Pediatrics, Capital Institute of Pediatrics, Beijing 100020);Clinicalstudy of 88 infants with cholestasis[J];Beijing Medical Journal;2012-07
2 QU Su-Qing,YANG Li-Cai,LUAN Zuo,DU Kan,YANG Hui.Department of Pediatrics,Navy general Hospital,Beijing 100048,China;Acute encephalopathy due to late-onset maple syrup urine disease in a school boy[J];Chinese Journal of Contemporary Pediatrics;2012-03
3 MO Shan,LI Weiyuan,LI Yanshan,DENG Lisha,ZHANG Qun(Dept.of Pediatrics,Foshan Hospital of Chinese Medicine,Foshan 528000 Guangdong,China);Analysis of Psychological and Behavioral Differences in Idiopathic Central Precocious Puberty Girls with Different Traditional Chinese Medical Syndromes[J];Journal of Guangzhou University of Traditional Chinese Medicine;2012-05
4 ;Research progress in endocrine,genetic and metabolic diseases in children[J];Chinese Journal of Practical Pediatrics;2011-05
【Secondary Citations】
Chinese Journal Full-text Database 10 Hits
1 SONG Yuan-Zong,HAO Hu,USHIKAI Miharu,LIU Guo-Sheng,XIAO Xin,SAHEKI Takeyori,KOBAYASHI Keiko,WANG Zi-Neng.Department of Pediatrics,First Affiliated Hospital,Jinan University,Guangzhou 510632,China;A difficult and complicated case study: neonatal intrahepatic cholestasis caused by citrin deficiency[J];Chinese Journal of Contemporary Pediatrics;2006-02
2 SONG Yuan-Zong,GUO Li,YANG Yan-Ling,HAN Lian-Shu,KOBAYASHI Keiko,SAHEKI Takeyori. Department of Pediatrics,First Affiliated Hospital,Jinan University,Guangzhou 510630,China;Failure to thrive and dyslipidemia caused by citrin deficiency:a novel clinical phenotype[J];Chinese Journal of Contemporary Pediatrics;2009-05
3 YANG Yan- ling. Department of Pediatrics, First Hospital of Peking University, Beijing 100034,China;Biotin and biotinidase deficiency[J];The Journal of Clinical Pediatrics;2006-12
4 YANG Ling1,SONG Fang2,SHEN Ming1,ZHOU Zhong-shu1,ZHAO Shi-ping3,LI Xiao-wen4,HE Chun3,ZHANG Zhi-xin1(1. Department of Pediatrics,China-Japan Friendship Hospital,Beijing 100029,China;2. Department of Genetics,The Capital Institute of Pediatrics,Beijing 100020,China;3. Institute of Clinical Medical Sciences,China-Japan Friendship Hospital,Beijing 100029,China;4. Division of Nutrition, China-Japan Friendship Hospital,Beijing 100029,China);Clinical and genetic analysis of tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency[J];Journal of Clinical Pediatrics;2007-04
5 QIU Wen-juan1,YE Jun1,HAN Lian-shu1,GAO Xiao-lan1,WANG Yu1,YANG Pei-rong2,HE Zhen-juan3,GU Xue-fan1(1.Department of Pediatric Endocrinology and Genetic Metabolism,Shanghai Institute for Pedia-tric Research,Xinhua Hospital Affiliated to Shanghai Jiaotong University School of Medicine,Shanghai 200092,China;2.Department of Pediatrics,Shanghai Children's Medical Center Affiliated to Shanghai Jiaotong University School of Medicine,Shanghai 200127,China;3.Department of Pediatrics,Xinhua Hospital Affiliated to Shanghai Jiaotong University School of Medicine,Shanghai 200092,China);Clinical and laboratory features of 12 patients with neonatal intrahepatic cholestasis caused by citrin deficiency[J];Journal of Clinical Pediatrics;2007-12
6 ZHAO Di1,ZHANG Ming-ming1,WANG Tian-you1,WANG Li1,LIANG Lu1,HOU Dong-qing2,MI Jie2(Capital Pediatric Research Institute,1.Children's Hospital; 2.Department of Epidemiology,Beijing 100020,China);Effect of body mass index changes from childhood to adulthood on blood pressure in adulthood:Beijing children blood pressure cohort(BCBPC)study[J];Journal of Clinical Pediatrics;2008-08
7 HE Li1,GUO Sheng2,LI Pin1,CHEN Lin-qi3(1.Children's Hospital Affiliated to Shanghai Jiaotong University,Shanghai 200040,China;2.School of Medicine,Shanghai Jiaotong University,Shanghai 200025,China;3.The Children's Hospital of Soochow University,Suzhou 215003,Jiangsu,China);The subjective quality of life and parental nurturing in children with type 1 diabetes mellitus treated with conventional subcutaneous insulin or with insulin pump therapy[J];Journal of Clinical Pediatrics;2008-09
8 HUANG Li-su,LIU Xiao-qing,JIAO Xian-ting,ZHANG Ya-fen(Shanghai Institute for Pediatric Research,Xinhua Hospital Affiliated to Shanghai Jiaotong University School of Medicine,Shanghai 200092,China);Prenatal and pre-symptomatic diagnosis of Wilson disease[J];Journal of Clinical Pediatrics;2008-11
9 LIU Min, GONG Chun-xiu, LI Ming, CAO Bing-yan ( Department of Pediatrics, Beijing Children' s Hospital, Capital Medical University, Beijing 100045, China);Survey of gastric emptying in children and adolescents with type 1 diabetes[J];Journal of Clinical Pediatrics;2008-12
10 ZHU Jian-fang, LIANG Li, WANG Chun-lin, FU Jun-fen, HONG Fang, DONG Guan-ping (Department of Endocrinology, Children' s Hospital Affiliated to Medical College of Zhejiang University, Hangzhou 310003, Zhejiang, China);Clinical analysis of 24 adolescents with precocious puberty associated with tumors[J];Journal of Clinical Pediatrics;2008-12
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