Human medicines European public assessment report (EPAR): Ucedane, carglumic acid, Hyperammonemia,Amino Acid Metabolism, Inborn Errors, Date of authorisation: 23/06/2017, Revision: 5, Status: Authorised

2019 ◽  
Author(s):  
Keyword(s):  
Amino Acid ◽  
Amino Acid Metabolism ◽  
Acid Metabolism ◽  
Inborn Errors ◽  
Assessment Report ◽  
European Public ◽  
European Public Assessment Report

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

2021 ◽  
Vol 4 (1) ◽  
Author(s):  
Rianne E. van Outersterp ◽  
Sam J. Moons ◽  
Udo F. H. Engelke ◽  
Herman Bentlage ◽  
Tessa M. A. Peters ◽  
...  
Keyword(s):  
Amino Acid ◽  
Amino Acid Metabolism ◽  
Acid Metabolism ◽  
The Body ◽  
Inborn Errors ◽  
Primary Metabolite ◽  
Diagnostic Strategies ◽  
Ion Spectroscopy ◽  
Disease Biomarkers ◽  
Amadori Rearrangement

AbstractThe 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 pathophysiology of diabetes mellitus and ageing, but are now shown to also form under conditions of aminoacidemia. They represent a general class of metabolites for inborn errors of amino acid metabolism that show potential as biomarkers and may provide further insight in disease pathophysiology.

Essential polyunsaturated fatty acids in plasma and erythrocytes of children with inborn errors of amino acid metabolism

2006 ◽  
Vol 88 (2) ◽  
pp. 159-165 ◽  
Author(s):  
H. Vlaardingerbroek ◽  
G. Hornstra ◽  
T.J. de Koning ◽  
J.A.M. Smeitink ◽  
H.D. Bakker ◽  
...  
Keyword(s):  
Fatty Acids ◽  
Amino Acid ◽  
Polyunsaturated Fatty Acids ◽  
Amino Acid Metabolism ◽  
Acid Metabolism ◽  
Inborn Errors

scholarly journals Mental Reterdation in Inborn Errors of Amino Acid Metabolism

1976 ◽  
Vol 29 (1) ◽  
pp. 1-9
Author(s):  
Keiya TADA ◽  
Hisao AOKI ◽  
Goro TAKADA ◽  
Kiyoshi OMURA
Keyword(s):  
Amino Acid ◽  
Amino Acid Metabolism ◽  
Acid Metabolism ◽  
Inborn Errors
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