Nuclear Magnetic Resonance (NMR) spectroscopy has been applied in many fields of science and is increasingly being considered as a tool in the clinical setting. This review examines its application for diagnosis of inborn errors of metabolism (IEMs). IEMs, whether involving deficiency in the synthesis and degradation of metabolites, or in lipoprotein metabolism, affect nearly 3% of the global population. NMR is a preferred method for comprehensive evaluation of complex biofluids such as blood or urine, as it can provide a relatively unbiased overview of all compounds that are present and does not destroy or otherwise chemically alter the sample. While current newborn screening programs take advantage of other more sensitive methods, such as mass spectrometry, NMR has advantages especially for urine analysis with respect to ease of sample preparation and the reproducibility of results. NMR spectroscopy is particularly compatible with analysis of lipoproteins because it provides information about their size and density, not easily attained by other methods, that can help the clinician to better manage patients with dyslipidemia. We believe that NMR holds great potential for expanding clinical diagnosis in the future, in the field of IEMs and beyond.
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May 2021
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In-cell and in vitro study of protein folding has been significantly advanced by using biophysical approaches including FRET, NMR, CEST-MRI and optical tweezers. Read more about this in the review by Zhang et al. (pp. 29–38) of the special biophysics issue, ‘Emerging trends in biophysics and their applications in modern biology’, guest edited by Kakoli Bose (ACTREC, India).
Review Article|
February 01 2021
Use of nuclear magnetic resonance spectroscopy in diagnosis of inborn errors of metabolism
Cameron B. Speyer
;
Cameron B. Speyer
Master's Program in Biomedical Sciences, Departments of Medical Education and Developmental, Molecular, and Chemical Biology, Tufts University School of Medicine, 136 Harrison Avenue, Boston, Massachusetts 02111, U.S.A.
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James D. Baleja
Master's Program in Biomedical Sciences, Departments of Medical Education and Developmental, Molecular, and Chemical Biology, Tufts University School of Medicine, 136 Harrison Avenue, Boston, Massachusetts 02111, U.S.A.
Correspondence: James D. Baleja (jim.baleja@tufts.edu)
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Publisher: Portland Press Ltd
Received:
December 03 2020
Revision Received:
January 11 2021
Accepted:
January 13 2021
Online ISSN: 2397-8562
Print ISSN: 2397-8554
© 2021 The Author(s). Published by Portland Press Limited on behalf of the Biochemical Society and the Royal Society of Biology
2021
Emerg Top Life Sci (2021) 5 (1): 39–48.
Article history
Received:
December 03 2020
Revision Received:
January 11 2021
Accepted:
January 13 2021
Citation
Cameron B. Speyer, James D. Baleja; Use of nuclear magnetic resonance spectroscopy in diagnosis of inborn errors of metabolism. Emerg Top Life Sci 14 May 2021; 5 (1): 39–48. doi: https://doi.org/10.1042/ETLS20200259
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