新生儿期至青春期血中肉碱和酰基肉碱的变化  

Bloodspot carnitine and acylcarnitine in newborn to adolescence： measured by tandem mass spectrometry

作　　者：龚振华[1] 田国力[1] 王燕敏[1] 

机构地区：[1]上海交通大学附属儿童医院新生儿筛查中心,200040

出　　处：《中华儿科杂志》2010年第12期922-927,共6页Chinese Journal of Pediatrics

基　　金：基金项目：上海市卫生局课题（2009096）

摘　　要：目的 用串联质谱测定不同年龄儿童血中游离肉碱和各种酰基肉碱浓度,为诊断肉碱缺乏和各种有机酸和脂肪酸代谢病奠定基础.方法 研究对象是围产期新生儿1376例,大于1周的新生儿49例,小于1岁的婴幼儿64例,1～15岁儿童401例.围产期新生儿是无选择的产院出生儿,包括了少量早产儿和低出生体重儿.其余主要是排除了发热、腹泻、肝病、严重疾病等影响脂肪代谢的门诊小手术的体检儿童.用非衍生法前处理滤纸血片,串联质谱测定其中游离肉碱和30种酰基肉碱浓度.结果 游离肉碱（C0）、短链酰基肉碱（C2、C3、C4、C5）、中链酰基肉碱（C6、C8、C 10）及其烯酰基、羟基、二酰基肉碱和总肉碱水平新生儿阶段较低,1～3个月时最高,之后降低,2～15岁在相同水平维持.长链酰基肉碱（C12、C14、C16、C18）及其烯酰基肉碱、羟基酰基肉碱及其总和新生儿阶段最高,逐渐降低,2～15岁在相同水平维持.游离肉碱浓度（23.387±7.702）μmol/L,（30.064±8.252）μmol/L,（25.021±6.630）μmol/L,总长链酰基肉碱浓度（4.998±1.557）μmol/L,（2.854±0.821）μmol/L,（2.459±0.553）μmol/L,肉碱酰基肉碱总浓度（43.497±12.632）μmol/L,（49.013±12.497）μmol/L,（39.656±9.257）μmol/L在新生儿组、小于1岁组和大于1岁组差异有统计学意义（P＜0.01）.围产期新生儿男婴组肉碱（24.115±7.715）μmol/L和肉碱和酰基肉碱总和（43.65±5.252）μmol/L分别高于女婴（22.696±7.246）μmol/L和（41.90±5.038）μmol/L（P＜0.05）.新生儿组游离肉碱占总肉碱比值（54.0%±7.1%）明显小于非新生儿组（62.1%±6.1%,P＜0.05）,而长链（33.5%±6.0%）、中链（1.3%±0.3%）和短链脂酰基肉碱（11.6%±2.5%）与总肉碱比值分别高于非新生儿组（30.1%±4.9% 0.9%±0.6% 6.5%±2.3%,P＜0.05）.结论 1岁以内血中肉碱和酰基肉碱水平和构成变化较大,在评价肉碱营养状态和诊断有机酸和�Objective To determine the levels of bloodspot carnitine and acylcarnitine in children aged 0-15 years by tandem mass spectrometry, offer basic data for evaluating carnitine nutritional status and diagnosing metabolic diseases of organic acid and fatty acid. Methods The concentration of carnitine and acylcarnitines were measured in bloodspots by tandem mass spectrometry using underivatized samples. The samples included those from 1376 perinatal neonates, 49 neonates above 1 week of life, 64 children aged up to 1 year and 401 children aged 1 year to 15 years. A few premature infants and low birth weight infants were involved in perinatal neonates without selection. Other samples were taken from mainly outdoor patients for little surgical preoperative examination. Patients suffering from fever, diarrhea, liver disease, severe fatmetabolic diseases were excluded from this study. Results The concentrations of carnitine （ C0 ） shortchain acylcarnitines （ SC-AC）, including acetyl （ C2 ）, propionyl （ C3 ）, malonyl （ C3 DC ）, butyryl （ C4 ）,methymolonyl （ C4DC ）, isovaleryl （ C5 ）, glutaryl （ C5DC ） middle-chain acylcarnitines （ MC-AC ）,in 1-3 months of age, higher in 6-12 months of age, and kept at the same level between 2 and 15 years of and 3-hydroxy-octadecanoyl （C18OH）were the highest in neonate, decreased gradually, and kept the same level between 2 and 15 years of age. The concentrations of C0 （ 23. 387 ± 7. 702 ） μ mol/L, （ 30. 064 ±8.252） μ mol/L, （25.021 ±6.630） μ mol/L, of LC-AC （4.998 ±1.557） μmol/L, （2.854 ±0.821） μ mol/L, （2. 459 ± 0. 553 ） μmol/L, of TCAC （43.497 ± 12. 632） μ mol/L, （49. 013 ± 12. 497 ） μmol/L,（ 39. 656 ± 9. 257 ） μ mol/L were significantly different among the groups of neonate, up to 1 year and above 1 year （ P 〈 0. 01 ）. The concentrations of C0 （ 24. 115 ± 7. 715 ） μmol/L and TCAC （43.65 ± 5. 252 ） μmol/L in perinatal male neonates were higher than that （22. 696 ± 7.

关 键 词：串联质谱法 肉碱 年龄因素 

分 类 号：R722.1[医药卫生—儿科]