PubMed · 8432035
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R Ekins, F Chu. 1993. Multianalyte testing.. https://pubmed.ncbi.nlm.nih.gov/8432035/
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An analytical method is presented to determine glycerol concentrations and stable isotope tracer enrichments in human plasma after intravenous tracer infusion in a single analytical run, using gas chromatography coupled to mass spectrometry. The method uses an internal standard, which is also a stable isotope labeled form of glycerol. Three substances were tested as model compounds viz. [2-13C]glycerol, and [1,2,3-13C3]glycerol, and [1,1,2,3, 3-2H5]glycerol. Any combination of two can be used (one as internal standard, one as tracer), even if overlapping of the mass spectra occurs. The method is precise (recovery of spiked glycerol and tracer are, respectively, 99.7 and 99.8%) and reproducible (intraassay variation <1.5%, interassay variation <6%) and needs only a small amount of plasma (100 microl).
From 1988 to 1995, our laboratory at the Institute of Chemistry of the Federal University of Rio de Janeiro, in Rio de Janeiro, screened 2650 samples from 2000 high-risk patients (mostly children) for Inborn Errors of Metabolism (IEM). Chemical tests, various chromatographic techniques and enzyme assays were performed on urine, plasma and in some cases, cerebrospinal fluid (CSF). A total of 145 cases of IEM (7.2%) was identified. These were related to: the metabolism of amino acids (41) and carbohydrates (17), organic acids (7), lysosomal enzymes (61), membrane transport system (16), metals (2), intestinal disaccharidases (1) and porphyrin metabolism (3). Furthermore, a relevant number of patients with abnormal findings is still under investigation. Biochemical results and clinical symptoms are presented and the importance of reference laboratories for the detection of IEM is stressed.
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