Electrospray - - tandem mass spectrometry for the investigation of newborns.

摘要

Tandem mass spectrometry (MS/MS) has been used extensively for solving various biological problems, such as structure identification of oligopeptides, nucleic acids, and nucleotides. One of the main advances of MS/MS is that it lends itself to the quantitative and qualitative analysis of certain analytes and complex mixtures with little or no clean up. Quantitative analysis of amino acids and acylcarnitines using tandem mass spectrometry used to screen neonatal dried blood spot samples for disorders in the metabolism of amino acids, organic acids and fatty acids is an emerging technology. The method described herein extends the use of tandem mass spectrometry to the analysis of α-hydroxyketones and hexose phosphates from blood spots for newborn screening. Thus, according to this invention one test can be used to screen a number of neonatal disorders and diseases.