Screening of inherited diseases with abnormal sterol metabolism by LC-MS/MS

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We have developed a highly sensitive and specific method for the analysis of sterol profiles in biological samples. Sterols in less than 10μl of dried serum were derivatized into picolinyl esters and analyzed by high performance liquid chromatography-tandem mass spectrometry (HPLC-MS/MS) using the electrospray ionization (ESI) mode. In addition to cholesterol, more than 50 cholesterol related sterols were simultaneously identified within 50 minutes. Quantitative analyses for the picolinyl esters of 20 available sterols were performed. Detection limits were found to be less than 1 pg on-column, and sufficient reproducibilities and recoveries of these sterols were observed. The present method provides reliable and reproducible results for the identification and quantification of neutral sterols, especially in small volumes of blood samples, which is useful for serological diagnosis of inherited diseases with abnormal sterol metabolism.