Development of multi-point recognizing derivatization procedures for reliable diagnoses of inborn errors of metabolism

利用LC/ESI-MS/MS对先天性代谢性疾病(如先天性肾上腺增生症)进行高灵敏度、高特异性的检测，建立了多点识别衍生化方法。将该方法应用于临床样品(干血斑、尿液、唾液等)的分析，证明在CAH、长链3-羟基辅酶A脱氢酶缺乏症和新生儿维生素D缺乏症的诊断中具有足够的实用性。

The multi-point recognizing derivatization procedures, which enable to the highly sensitive and specific determination of diagnostic makers by LC/ESI-MS/MS, have been developed for reliable diagnoses of inborn errors of metabolism, such as congenital adrenal hyperplasia (CAH). The developed procedures was applied to the clinical sample analyses (dried blood spot, urine, saliva and so on) and proved to have sufficient practicality in diagnoses of CAH, long-chain 3-hydroxyacyl CoA dehydrogenase deficiency and neonatal vitamin D deficiency.