Smith Emily H, Matern Dietrich
Mayo Clinic College of Medicine, Rochester, Minnesota, USA.
Curr Protoc Hum Genet. 2010 Jan;Chapter 17:Unit 17.8.1-20. doi: 10.1002/0471142905.hg1708s64.
Carnitine plays an essential role in fatty acid metabolism, as well as modulation of intracellular concentrations of free coenzyme A by esterification of acyl residues. Acylcarnitine analysis of various biological fluids is a sensitive method to detect >20 inborn errors of metabolism that result in abnormal accumulation of acylcarnitine species due to several organic acidemias and most fatty acid beta-oxidation disorders. In addition, acylcarnitine analysis may aid in monitoring treatment of known patients affected with these inborn errors of metabolism. This unit describes protocols that can be used to measure acylcarnitine species of various carbon chain lengths in several biological specimen types including plasma, dried blood and bile spots, and urine, by derivatization to butylesters and flow-injection electrospray ionization tandem mass spectrometry (ESI-MS/MS).
肉碱在脂肪酸代谢中起着至关重要的作用，同时通过酰基残基的酯化作用调节细胞内游离辅酶A的浓度。对各种生物体液进行酰基肉碱分析是一种灵敏的方法，可检测20多种先天性代谢缺陷，这些缺陷由于多种有机酸血症和大多数脂肪酸β氧化障碍而导致酰基肉碱种类异常积累。此外，酰基肉碱分析有助于监测已知患有这些先天性代谢缺陷患者的治疗情况。本单元介绍了一些方案，可通过衍生化为丁酯并采用流动注射电喷雾电离串联质谱法（ESI-MS/MS）来测量几种生物样本类型（包括血浆、干血斑、胆汁斑和尿液）中不同碳链长度的酰基肉碱种类。
