Mass spectrometry is used to identity molecules for research, clinical, and legal purposes.
Our clinical activities include screening for inborn errors of metabolism in children by quantifying chemicals in body fluids by gas chromatography-mass spectrometry. We developed a new method of sample preparation which allows carbohydrates and amino and organic acids to be detected in the same sample. Review of thousands of recent samples from seriously ill infants and children has shown that clinically relevant nutritional metabolic abnormalities outnumber genetic metabolic abnormalities by about 10 to 1. Current research is concerned with the evaluation of special nutritional needs in children with Down syndrome and the diagnosis of vitamin deficiency by quantitation of urinary metabolites after an oral dose of amino acids and other food constituents. Society for Inherited Metabolic Disorders, American Society for Nutritional Sciences, Alpha Omega Alpha, Sigma Xi.