New organic acid analysis for inherited organic acidemia

遗传性有机酸血症的尿液筛查是一种复杂而耗时的方法。我们开发了一种新的有机酸液相分配色谱分析方法。气相色谱质谱法。本系统采用个人计算机反求法连接。这种方法消除了手工操作的错误，节省了时间。最大的灵敏度也由于液相分配色谱使用硅柱液相分配色谱。使用这种方法，我们发现了许多遗传性有机酸血症和尿素循环障碍的患者。该方法特别适用于甲基柠檬酸和其他极性化合物的检测。传统的方法采用有机溶剂萃取法对极性化合物进行失败检测。由于甲基丙二酸血症和丙酸血症是主要的有机酸血症，因此准确的检测和定量对诊断至关重要。

Screening urine for inherited organic acidemia required complex and time consuming method.We have developed new organic acid analysis uring liquid partition chromatography. and gas chromatography mass spectrometry. This system was connected with reverse-search method using personal computor. This method enabled to abolish the mistakes due to manual procedure and save time. Maximal sensitivity is also due to liquid partition chromatography using silicic column liquid partition chromatography. Using this method, we found many patients with inherited organic acidemia and urea cycle disorders. This method was especially useful for the detection of methylcitric acid and other polar compound. Conventional method using organic solvent extraction used to fail the detection of polar cpmpounds.Because methylmalonic acidemia and propionic acidemia are major organic acidemia, the accurate detection and quantification is critically important for the diagnosis.