营养不良时酰基肉碱谱的变化-中华医学会.doc

PAGE  PAGE 9 【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，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 Acylcarnitine profile in children of malnutrition 【Abstract】Objective We 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 how to distinguish them here. Methods Thirteen patients of children with malnutrition and 214 children of the same age without malnutrition as group of control were included in this study. Diarrhea, liver disease and metabolic diseases were excluded from both groups. The blood samples were collected when they were administrated to hospital. The concentration of carnitine and acylcarnitines were measured in bloodspots by tandem mass spectrometry using samples underivatized. Results The concentrations of acylcarnitines which were involved in fatty acid oxidation, including octadecanoyl (C18) to acetyl (C2) acylcarnitines, ketonic acylcarnitines were higher in malnutrition group than that of control. For example, the concentration of decanoyl acylcarnitine (C10 ) in malnutrition group 0.203±0.105 ?mol/L, which was out of normal rang (0-0.2 ?mol/L), was higher than that 0.054±0.030 ?mol/L in control group, p0.001. There were no significant difference in the concentrations of acylcarnitines which were involved in amino acid decomposition, such as propionyl (C3), isovaleryl (C5), 3-hyd