【摘要】目的在临床实践中发现，营养不良患儿血中酰基肉碱谱改变，对中链酰基辅酶A脱氢酶缺乏症（MCAD）、多种酰基辅酶A脱氢酶缺乏症(MAD,或戊二酸血症Ⅱ型)等疾病的诊断造成干扰。现将营养不良患儿血中酰基肉碱谱特点与鉴别经验报告如下。方法收集营养不良患儿13例，同期同年龄段非代谢病患儿214例作为对照组。入院时空腹采集末梢血制成干血片,串联质谱非衍生化法检测其肉碱和多种酰基肉碱浓度。结果脂肪酸氧化分解相关的脂酰基肉碱，营养不良组中，从十八碳脂酰基肉碱至乙酰肉碱，包括酮体酰基肉碱，即丙二酰肉碱和羟基丁酰肉碱都有不同程度增高，以中链酰基肉碱增高明显，其中癸酰肉碱营养不良组（0.203±0.105）mol/L，超出正常参考值范围（0-0.2mol/L），显著高于对照组（0.054±0.030）mol/L，p<0.001。氨基酸分解相关的丙酰肉碱、戊酰肉碱、羟基戊酰肉碱和戊二酰肉碱等，在营养不良组和对照组间无显著差异。结论营养不良患儿血中脂肪酸代谢相关的酰基肉碱增高，以中链脂酰基肉碱增高明显，癸酰肉碱略超出正常值等特点，可与中链酰基辅酶A脱氢酶缺乏症和多种酰基肉碱辅酶A脱氢酶缺乏症等疾病鉴别。【关键词】营养不良；酰基肉碱；串联质谱Acylcarnitineprofileinchildrenofmalnutrition【Abstract】ObjectiveWefoundthatacylcarnitineprofileinchildrenofmalnutritionhasaspecificcharacteristic,whichsometimesconfusedwithmedium-chainacyl-CoAdehydrogenase(MCAD)deficiencyandMultipleacyl-CoAdehydrogenase(MAD)deficiency/glutaricaciduriatypeII(GAII),wereporthowtodistinguishthemhere.MethodsThirteenpatientsofchildrenwithmalnutritionand214childrenofthesameagewithoutmalnutritionasgroupofcontrolwereincludedinthisstudy.Diarrhea,liverdiseaseandmetabolicdiseaseswereexcludedfrombothgroups.Theblood---本文来源于网络，仅供参考，勿照抄，如有侵权请联系删除---1123456789101112131415161718192021222sampleswerecollectedwhentheywereadministratedtohospital.Theconcentrationofcarnitineandacylcarnitinesweremeasuredinbloodspotsbytandemmassspectrometryusingsamplesunderivatized.ResultsTheconcentrationsofacylcarnitineswhichwereinvolvedinfattyacidoxidation,includingoctadecanoyl(C18)toacetyl(C2)acylcarnitines,ketonicacylcarnitineswerehigherinmalnutritiongroupthanthatofcontrol.Forexample,theconcentrationofdecanoylacylcarnitine(C10)inmalnutritiongroup0.203±0.105mol/L,whichwasoutofnormalrang(0-0.2mol/L),washigherthanthat0.054±0.030mol/Lincontrolgroup,p<0.001.Therewerenosignificantdifferenceintheconcentrationsofacylcarnitineswhichwereinvolvedinaminoaciddecomposition,suchaspropionyl(C3),isovaleryl(C5),3-hydroxy-isovaleryl(C5OH)andglutaryl(C5DC)acylcarnitinesbetweenthemalnutritionandcontrolgroup.ConclusionsConcentrationsofacylcarnitinesrelatedtofattyacidoxidationelevateinthemalnutrition,especiallymedium-chainacylcarnitinesC10isoutofnormalrange,whichcanbeusedtodifferentiatemalnutritionfromMCADandMAD.【Keywords】Acylcarnitine;Malnutrition;Tandemmassspectrometry随着串联质谱在新生儿疾病筛查和临床代谢病辅助诊断中推广普及，肉碱和酰基肉碱谱在生理和病理条件下的变化引发人们的关注〔1，2〕。不同组织细胞内各种酰基辅酶A在不同肉碱酰基转移酶的作用下，利用肉碱迅速生成相应的酰基肉碱，这种反应同样也参与脂酰基肉碱的转运，如肝细胞脂肪酸氧化加强时向细胞外释放出脂酰基肉碱。血浆中酰基肉碱的水平，反应细胞浆内的酰基肉碱浓度，因此血中酰基肉碱可作为细胞内酰基肉碱的检测指标〔3〕。酰基肉碱参与脂肪酸向线粒体内转运和代谢；维持游离辅酶A和酯化辅酶A在细胞内的平衡；协助排除线粒体内多余的酰基；排除过氧化物酶体内的乙酰基和短链酰---本文来源于网络，仅供参考，勿照抄，如有侵权请联系删除---1123456789101112131...