Affiliation:
1. 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.
Abstract
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.
Subject
General Agricultural and Biological Sciences,General Biochemistry, Genetics and Molecular Biology
Cited by
3 articles.
订阅此论文施引文献
订阅此论文施引文献,注册后可以免费订阅5篇论文的施引文献,订阅后可以查看论文全部施引文献