营养不良患儿酰基肉碱谱变化

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.

Acylcarnitine profile in children of malnutrition

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.