Abstract
The laboratory diagnosis of inherited metabolic diseases cannot always be achieved by analysis of amino acids, organic acids, and other small molecules alone. Often, however, additional investigations also do not lead to the diagnosis while there is a strong suspicion of a metabolic disease. In such cases 1H-NMR spectroscopy of body fluids has been applied as a complementary technique, in fact a last resort to find the diagnosis (Engelke et al. 2007a, b, 2008; Moolenaar et al. 1999, 2001a, b). 1H-NMR spectroscopy of body fluids requires minimal or no sample pretreatment. The resulting spectra show the majority of proton-containing compounds. They provide an overall view on metabolism. This holistic view makes NMR spectroscopy a cornerstone of metabolomics. In the diagnostics of hereditary metabolic diseases, this is a major advantage compared to other techniques. 1H-NMR spectroscopy of body fluids may be considered as an alternative analytical approach for diagnosing known but also as yet unknown inborn errors of metabolism.
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Engelke, U., Goudswaard, A., Wevers, R. (2014). Proton NMR Spectroscopy of Body Fluids. In: Blau, N., Duran, M., Gibson, K., Dionisi Vici, C. (eds) Physician's Guide to the Diagnosis, Treatment, and Follow-Up of Inherited Metabolic Diseases. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-642-40337-8_53
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