Liquid Chromatography-tandem Mass Spectrometry for Analysis of Acylcarnitines in Dried Blood Specimens Collected at Autopsy from Neonatal Intensive Care Unit

作     者：Wen-jun Tu Fang Dai Xin-yu Wang Ying Li James Jian Ho 

作者机构：Center for Clinical Laboratory Development Chinese Academy of Medical Sciences ＆ Peking Union Medical College Beijing 102206 China Department of Pediatrics Beijing Haidian Maternal ＆ Child Health Hospital Beijing 100080 China 

出 版 物：《Chinese Medical Sciences Journal》 (中国医学科学杂志（英文版）)

年 卷 期：2010年第25卷第2期

页      面：109-114页

核心收录：

学科分类：0831[工学-生物医学工程（可授工学、理学、医学学位）] 1004[医学-公共卫生与预防医学(可授医学、理学学位)] 08[工学] 09[农学] 0901[农学-作物学] 10[医学] 

主　　题：tandem mass spectrometry inborn errors of metabolism neonatal intensive care unit autopsy 

摘      要：Objective To investigate the feasibility of analyzing acylcarnitine in dry filter-paper blood spots by liquid chromatography-tandem mass spectrometry(LC-MS/MS) which could be applied to detect inborn errors of metabolism in *** We obtained filter-paper blood from 26 dead infants from a neonatal intensive care unit(NICU) between October 1,2008 and September 30,*** and amino acid profiles were obtained with LC-MS/*** infants underwent routine *** postmortem blood specimens were compared with newborn blood specimens,and with specimens obtained from older infants with metabolic *** Of all the 26 patients,5(19.2%) were diagnosed as having different kinds of diseases:3 with methylmalonic acidemia(the concentration of C3,and the ratio of C3/C16,C3/C2 increased),1 with maple syrup urine disease(the concentration of leucine and isoleucine increased),and 1 with isovaleric aci-demia(the concentration of C5 increased).Conclusions Postmortem metabolic test can explain infant deaths and provide estimates of deaths attributable to inborn errors of metabolism in ***-MS/MS is suitable for analysis of postmortem specimens and can be considered for routine application in NICU autopsy.