Use of nuclear magnetic resonance spectroscopy in diagnosis of inborn errors of metabolism

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.

Application of medical imaging methods and artificial intelligence in tissue engineering and organ-on-a-chip

“…Magnetic resonance spectroscopy (MRS) is a non-invasive metabolic imaging technology based on the same principle as MRI. MRS is most commonly obtained by 1 H. In addition, it can also be obtained by 13 C, 31 P, and other nuclei ( Speyer and Baleja, 2021 ). Single voxel spectroscopy (SVS) is the most commonly used and easily obtained MRS technology ( Zhang et al, 2018 ), which is limited to receiving signals from a single voxel.…”

Exploring the World of Membrane Proteins: Techniques and Methods for Understanding Structure, Function, and Dynamics

“…Nuclear Magnetic Resonance (NMR) is a highly versatile and powerful technique used across numerous scientific fields including biology. It also has vast applications in medical and clinical settings for disease detection [113,114]. But NMR is mainly applied in order to acquire 3D structures of membrane proteins at an atomic resolution in their native lipid bilayer [115], or in reconstructed near-native composition of the lipid bilayer [116].…”

NMR and Metabolomics—A Roadmap for the Future

“…Thanks to these improvements, MRS and MRSI are now offering metabolomics researchers and clinicians the ability to monitor detailed metabolic changes at high spatial resolution with good sensitivity in real time, in living organisms or in live patients. For example, NMR has been applied for identifying inborn errors of metabolism in clinical settings [ 16 , 54 ]. No other metabolomics technology (not LC-MS or GC-MS) offers this kind of chemical window on living systems.…”