Abstract: Methods and kits for high throughput screening and analysis of metabolic disorders using a laser desorption ion source coupled to a mass analyzer (for example, MALDI) are provided. The metabolic disorders can be amino acid, organic acid or fatty acid oxidation disorders. A panel of disorders can be analyzed at high speeds. The methods and kits are particularly useful for newborn screening (NBS) of metabolic disorders.

Abstract: Sol-gel derived monolithic silica columns containing entrapped dihydrofolate reductase were used for frontal affinity chromatography of small molecule mixtures. The output from the column combined with a second stream containing the matrix molecule (HCCA) and was directly deposited onto a conventional MALDI plate that moved relative to the column via a computer controlled x-y stage, creating a semi-permanent record of the FAC run. The use of MALDI MS allowed for a decoupling of the FAC and MS methods allowing significantly higher ionic strength buffers to be used for FAC studies, which allowed for better retention of protein activity over multiple runs.

Abstract: Sol-gel derived monolithic silica columns containing entrapped dihydrofolate reductase were used for frontal affinity chromatography of small molecule mixtures. The output from the column combined with a second stream containing the matrix molecule (HCCA) and was directly deposited onto a conventional MALDI plate that moved relative to the column via a computer controlled x-y stage, creating a semi-permanent record of the FAC run. The use of MALDI MS allowed for a decoupling of the FAC and MS methods allowing significantly higher ionic strength buffers to be used for FAC studies, which allowed for better retention of protein activity over multiple runs.

Abstract: Sol-gel derived monolithic silica columns containing entrapped dihydrofolate reductase were used for frontal affinity chromatography of small molecule mixtures. The output from the column combined with a second stream containing the matrix molecule (HCCA) and was directly deposited onto a conventional MALDI plate that moved relative to the column via a computer controlled x-y stage, creating a semi-permanent record of the FAC run. The use of MALDI MS allowed for a decoupling of the FAC and MS methods allowing significantly higher ionic strength buffers to be used for FAC studies, which allowed for better retention of protein activity over multiple runs.

Abstract: A novel method for the qualitative and quantitative analysis of dicarboxylic acids in biological samples is provided. The method includes the steps of esterfying the acid component of the sample and subsequently analyzing the esterified sample using tandem mass spectroscopy using atmospheric pressure ionization techniques in the positive ion mode. The method is particularly useful in the determination of methylmalonic acid in biological samples, and thus, the diagnosis of vitamin B12 deficiency.

Abstract: A novel method for the qualitative and quantitative analysis of dicarboxylic acids in biological samples is provided. The method includes the steps of estering the acid component of the sample and subsequently analyzing the esterified sample using tandem mass spectroscopy using atmospheric pressure ionization techniques in the positive ion mode. The method is particularly useful in the determination of methylmalonic acid in biological samples, and thus, the diagnosis of vitamin B12 deficiency.