Study on urinary profile of inborn errors of metabolism by 18-crown-6 modified capillary electrophoresis with laser-induced fluorescence detection

• Multiple diseases were simultaneously screened with minimal sample requirement.
• As a common agent, 18-cowrn-6 was first used as a surfactant, which dramatically improved the application scope of this method.
• This method presented a good sensitivity, linearity, reproducibility and accuracy.
• The method could obtain more diagnostic information of several diseases.
• The results could provide useful information for clinical researchers.

Newborn screening in urine is important for the diagnosis of many inborn errors of metabolism (IEM). Capillary electrophoresis with laser-induced fluorescence detection (CE–LIF) is a major technological advance in screening IEM. It has the advantage of sensitive and simultaneous multiple disease screening with minimal sample requirement. The analytes were derivatized with fluorescein isothiocyanate (FITC) prior to CE–LIF analysis. In urine samples, free amino acids (AAs) were well separated from other coexisting components, exhibiting a linear calibration over the concentration range 0.01–5.0 μmol/L with the limits of detection (LODs) ranging from 0.005 to 0.010 μmol/L. The relative standard deviations (RSDs) were in the range 0.1–1.0% for peak area, and 0.2–1.0% for migration time, respectively. Under optimized conditions, the method presented here has been successfully used for the simultaneous and sensitive analysis of seven AAs in urine samples of newborn babies, and evaluating the effect of therapy as well.