A comprehensive approach for detection of biotin deficiency from dried blood spot samples using liquid chromatography-mass spectrometry.

The aim of the present study is to develop a liquid chromatography-mass spectrometry method to measure two important biomarkers of biotin deficiency from dried blood spot samples for effective management of the disorder. The method was developed on a liquid chromatography-mass spectrometry system using pentafluorophenyl column employing a mobile phase composition of methanol and water in the isocratic mode. A full validation of the method was performed as per relevant guidelines. Correlation between the results of dried blood spot and plasma method was evaluated to determine the interconvertibility of the method. The developed method was successfully applied for establishing the reference ranges for these biomarkers in the population of Udupi, a coastal district of South India.