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1、12345678910111213141516171819202122【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U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历报告如下。方法收集营 养不良患儿13例，同期同年龄段非代病患儿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
2、增高，以中链酰基肉碱增高明显，其中癸酰肉碱营养 不良组0.2030.105ymol/L，超出正常参考值围0-0.2 ymol/L，显著高于对照组0.0540.030ymol/L, p0.001。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 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Acylcarnitine profile in children of malnutr
3、ition【Abstract】ObjectiveWe found that acylcarnitine profile in children of malnutrition has a specific characteristic, which sometimes confused with medium-chain acyl-CoA dehydrogenase (MCAD) deficiency and Multiple acyl-CoA dehydrogenase (MAD) deficiency /glutaric aciduria type II(GA II),we report
4、how to distinguish them here. MethodsThirteen patients of children with malnutrition and 214 childrenof the same age without malnutrition as group of control were included in this study. Diarrhea,liver diseaseand metabolic diseases were excluded from both groups.The blood sampleswere collected when
5、they were administrated to hospital. The concentration of carnitine and acylcarnitines were measured in bloodspots by tandem massspectrometry usingsamples underivatized.Results The concentrations of acylcarnitines which were involved in fatty acid oxidation, including octadecanoyl (C18) to acetyl (C
6、2) acylcarnitines, ketonic acylcarnitines were higher in malnutrition group than that of control. For example, the concentration of decanoylacylcarnitine (C10) in malnutrition group0.2030.105 pmol/L, which was out of normal rang (0-0.2 ymol/L),was higher than that0.0540.030 ymol/L in control group,
7、p0.05辛酰肉碱C80.02-0.190.1520.0930.0530.0270.001癸双烯酰肉碱C10:20-0.050.0190.0130.0110.0060.001癸烯酰肉碱C10:10-0.270.1320.0880.0450.0220.001癸酰肉碱C100-0.20.2030.1050.0540.0300.001月桂烯酰肉碱C12:10.01-0.230.0770.0430.0280.0180.001月桂酰肉碱C120.02-0.280.1010.0490.0530.0330.001肉豆蔻双烯酰肉碱C14:20-0.050.0280.0220.0160.0080.001肉豆蔻烯酰肉碱C14:10-0.20.1060.0660.0460.0230.001肉豆蔻酰肉碱C140.03-0.40.1370.0410.1040.0550.033
