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

多点识别衍生化程序，使LC/ESI-MS/MS对诊断者进行高度敏感和特异性的确定，已开发用于可靠诊断先天性代谢错误，如先天性肾上腺增生（CAH）。该程序已应用于临床样品分析（干血斑、尿、唾液等），在CAH、长链3-羟酰基辅酶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.