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These include metabolite measurements for plasma, urine and cerebrospinal fluid amino acids using ion exchange chromatography, urine organic acids using gas chromatography/mass spectrometry, and total and free carnitine levels and quantitative acylcarnitine profiles using electrospray tandem mass spectrometry.
Metabolic markers for disorders of fatty acid metabolism and some of the organic acid disorders include total and free carnitine levels and an acylcarnitine profile, are measured using tandem mass spectrometry.