Lepage Nathalie, Aucoin Susan
Biochemical Genetics Laboratory, Department of Genetics, Children's Hospital of Eastern Ontario, Ottawa, ON, Canada.
Methods Mol Biol. 2010;603:9-25. doi: 10.1007/978-1-60761-459-3_2.
Acylcarnitine analysis using tandem mass spectrometry has become a powerful tool in the investigation of pediatric patients presenting with clinical signs and symptoms suggestive of fatty acid oxidation defects. These signs are diverse and include failure to thrive, feeding difficulties, and cardiomyopathy. Because the signs and symptoms are nonspecific, the identification of acylcarnitines characteristic of these inherited diseases is necessary for diagnosis. We describe a method for the analysis of acylcarnitines in plasma or serum samples using electrospray ionization tandem mass spectrometry.
使用串联质谱法进行酰基肉碱分析已成为调查出现提示脂肪酸氧化缺陷临床体征和症状的儿科患者的有力工具。这些体征多种多样，包括生长发育迟缓、喂养困难和心肌病。由于体征和症状不具有特异性，因此识别这些遗传性疾病特有的酰基肉碱对于诊断至关重要。我们描述了一种使用电喷雾电离串联质谱法分析血浆或血清样本中酰基肉碱的方法。
