中华临床营养杂志
中華臨床營養雜誌
중화림상영양잡지
CHINESE JOURNAL OF CLINICAL NUTRITION
2014年
1期
13-17
,共5页
王燕敏%龚振华%田国力%景虹
王燕敏%龔振華%田國力%景虹
왕연민%공진화%전국력%경홍
酰基肉碱%营养不良%串联质谱
酰基肉堿%營養不良%串聯質譜
선기육감%영양불량%천련질보
Acylcarnitine%Malnutrition%Tandem mass spectrometry
目的 探讨营养不良患儿血酰基肉碱谱特点及用于代谢病的鉴别.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千血片,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,营养不良组从十八碳脂酰基肉碱至乙酰基肉碱,包括酮体酰基肉碱,即丙二酰基肉碱和羟基丁酰基肉碱都有不同程度增高,以中链酰基肉碱增高明显,其中营养不良组癸酰基肉碱为(0.203 ±0.105) μmol/L,超出正常参考值范围(0～0.200 μmol/L),显著高于对照组[0.054±0.030)μmol/L,P＜0.001].氨基酸分解相关的丙酰基肉碱、戊酰基肉碱、羟基戊酰基肉碱和戊二酰基肉碱等,营养不良组和对照组比较差异均无统计学意义(均P＞O.05).结论 营养不良患儿血中脂肪酸代谢相关的酰基肉碱增高,以中链酰基肉碱增高明显,癸酰基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.
目的 探討營養不良患兒血酰基肉堿譜特點及用于代謝病的鑒彆.方法 收集營養不良患兒13例,同期同年齡段非代謝病患兒214例作為對照組.入院時空腹採集末梢血製成韆血片,串聯質譜非衍生化法檢測其肉堿和多種酰基肉堿濃度.結果 脂肪痠氧化分解相關的脂酰基肉堿,營養不良組從十八碳脂酰基肉堿至乙酰基肉堿,包括酮體酰基肉堿,即丙二酰基肉堿和羥基丁酰基肉堿都有不同程度增高,以中鏈酰基肉堿增高明顯,其中營養不良組癸酰基肉堿為(0.203 ±0.105) μmol/L,超齣正常參攷值範圍(0～0.200 μmol/L),顯著高于對照組[0.054±0.030)μmol/L,P＜0.001].氨基痠分解相關的丙酰基肉堿、戊酰基肉堿、羥基戊酰基肉堿和戊二酰基肉堿等,營養不良組和對照組比較差異均無統計學意義(均P＞O.05).結論 營養不良患兒血中脂肪痠代謝相關的酰基肉堿增高,以中鏈酰基肉堿增高明顯,癸酰基肉堿略超齣正常值等特點,可與中鏈酰基輔酶A脫氫酶缺乏癥和多種酰基肉堿輔酶A脫氫酶缺乏癥等疾病鑒彆.
목적 탐토영양불량환인혈선기육감보특점급용우대사병적감별.방법 수집영양불량환인13례,동기동년령단비대사병환인214례작위대조조.입원시공복채집말소혈제성천혈편,천련질보비연생화법검측기육감화다충선기육감농도.결과 지방산양화분해상관적지선기육감,영양불량조종십팔탄지선기육감지을선기육감,포괄동체선기육감,즉병이선기육감화간기정선기육감도유불동정도증고,이중련선기육감증고명현,기중영양불량조계선기육감위(0.203 ±0.105) μmol/L,초출정상삼고치범위(0～0.200 μmol/L),현저고우대조조[0.054±0.030)μmol/L,P＜0.001].안기산분해상관적병선기육감、무선기육감、간기무선기육감화무이선기육감등,영양불량조화대조조비교차이균무통계학의의(균P＞O.05).결론 영양불량환인혈중지방산대사상관적선기육감증고,이중련선기육감증고명현,계선기육감략초출정상치등특점,가여중련선기보매A탈경매결핍증화다충선기육감보매A탈경매결핍증등질병감별.
Objective To summarize the acylcarnitine profile in children with malnutrition,with an attempt to distinguish it from those of medium-chain acyl-CoA dehydrogenase (MCAD) deficiency,multiple acylCoA dehydrogenase (MAD) deficiency,or glutaric aciduria type Ⅱ (GA Ⅱ).Methods Thirteen pediatric patients with malnutrition and 214 children of the same age but without malnutrition,which was set as the control group,were included in this study.The blood samples were collected at admission,and the concentration of carnitine and acylcarnitines were measured in bloodspots by tandem mass spectrometry using samples nnderivatized.Results The concentrations of acylcarnitines which were involved in fatty acid oxidation,including octadecanoyl (C18) to acetyl (C2) acylcarnitines and ketonic acylcarnitines,were higher in malnutrition group than in the control group.Particularly,the concentration of decanoyl acylcarnitine (C10) in the malnutrition group was (0.203 ±0.105) μmol/L,which was out of the normal rang (0-0.200 μmol/L),was significantly higher than that [(0.054 ±0.030) μmol/L] in the control group (P ＜0.001).There was no significant difference in the concentrations of acylcarnitines [e.g.propionyl (C3),isovaleryl (C5),3-hydroxy-isovaleryl (C5OH),and glutaryl (C5DC) acylcamitines] involved in amino acid decomposition between the malnutrition and control groups.Conclusions The concentrations of acylcarnitines related to fatty acid oxidation elevate in children with malnutrition.In particular,the medium-chain acylcarnitines C10 is out of the normal range,which can be used to differentiate malnutrition from MCAD and MAD.
