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 

机构地区：[1]Center for Clinical Laboratory Development, Chinese Academy of Medical Sciences ＆ Peking Union Medical College, Beijing 102206, China [2]Department of Pediatrics, Beijing Haidian Maternal ＆ Child Health Hospital, Beijing 100080, China

出　　处：《Chinese Medical Sciences Journal》2010年第2期109-114,共6页中国医学科学杂志（英文版）

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 neonates.Methods We obtained filter-paper blood from 26 dead infants from a neonatal intensive care unit(NICU) between October 1,2008 and September 30,2009.Acylcarnitine and amino acid profiles were obtained with LC-MS/MS.Four infants underwent routine autopsy.The postmortem blood specimens were compared with newborn blood specimens,and with specimens obtained from older infants with metabolic disorders.Results 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 NICU.LC-MS/MS is suitable for analysis of postmortem specimens and can be considered for routine application in NICU autopsy.

关 键 词：tandem mass spectrometry inborn errors of metabolism neonatal intensive care unit AUTOPSY 

分 类 号：S512.11[农业科学—作物学] TH776.1[机械工程—仪器科学与技术]