Amadori rearrangement products as potential biomarkers for inborn errors of amino-acid metabolism.

ABSTRACT: The identification of disease biomarkers plays a crucial role in developing diagnostic strategies for inborn errors of metabolism and understanding their pathophysiology. A primary metabolite that accumulates in the inborn error phenylketonuria is phenylalanine, however its levels do not always directly correlate with clinical outcomes. Here we combine infrared ion spectroscopy and NMR spectroscopy to identify the Phe-glucose Amadori rearrangement product as a biomarker for phenylketonuria. Additionally, we find analogous amino acid-glucose metabolites formed in the body fluids of patients accumulating methionine, lysine, proline and citrulline. Amadori rearrangement products are well-known intermediates in the formation of advanced glycation end-products and have been associated with the

SUBMITTER: van Outersterp RE 

PROVIDER: S-EPMC7979741 | biostudies-literature | 2021 Mar

REPOSITORIES: biostudies-literature