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Supplement

Mass Spectrometry Methods for Metabolic and Health Assessment¹

Biochemical Genetics Laboratory, Division of Laboratory Genetics, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN 55905

²To whom correspondence should be addressed. E-mail: matern{at}mayo.edu

Beginning in the mid 1960s, mass spectrometry was introduced in a few academic laboratories for the analysis of organic acids by gas chromatography-mass spectrometry. Since then, multiple-stage mass spectrometers have become available and many new applications have been developed. Major advantages of these new techniques include their ability to rapidly determine many different compounds in complex biological matrices with high sensitivity and in sample volumes of usually < 100 µL. A high sample throughput is further realized because extensive sample preparations are often not necessary. However, because the technical know-how is not yet widely available and significant experience is required for correct interpretation of results, these methods are being implemented slowly in routine clinical laboratories as opposed to research laboratories. Several of these new applications are considered with regard to clinical medicine.

KEY WORDS: • mass spectrometry • tandem mass spectrometry • inborn errors of metabolism • vitamin deficiencies

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