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

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 Successful Remote Monitoring During COVID-19 Pandemic of Patients with Inborn Errors of the Amino acid Metabolism not including PKU from a Single Reference center using Filter Paper Samples

2020 ◽  
Author(s):  
Sinziana Stanescu ◽  
Amaya Belanger-Quintana ◽  
Francisco Arrieta ◽  
Patricia Alcaide ◽  
Pedro Ruiz-Sala
Keyword(s):  
Amino Acid ◽  
Filter Paper ◽  
Remote Monitoring ◽  
Amino Acid Metabolism ◽  
Acid Metabolism ◽  
Metabolic Decompensation ◽  
Reference Laboratory ◽  
Inborn Errors ◽  
Clinical Assessments

Abstract Background. Patients with inborn errors of metabolism (IEM) pose specific management challenges, considering their multisystem involvement. Among them, children and adults with organic acidemias (OA) and other disorders of the amino acid metabolism have a high risk for severe metabolic events that need to be recognized and promptly treated, and therefore require frequent clinical and biochemical evaluations. The novel highly pathogenic SARS-CoV2 virus appeared in Europe in the first trimester of 2020. This pandemic has a huge impact on the health care systems all over the world, interrupting the follow-up of many chronic diseases. For metabolic patients, travel to reference units may be reduced due to mobility restrictions but more importantly, attendance to medical facilities can be a risk of infection that can be a danger in itself but also trigger a metabolic decompensation.Methods. During the first coronavirus disease (COVID-19) outbreak in Spain from March to June 2020, we designed a model of remote monitoring of our patients with amino acid disorders using telephone and/or online clinical assessments and using filter paper samples to continue the biochemical control. Results. Fourteen patients with inborn errors of amino acid metabolism other than PKU received filter papers and instructions to collect blood and urine samples home and send them to our reference laboratory. Conclusions. Considering the COVID19 pandemic evolution, new strategies to ensure IEM patients have an evaluation continuity need to be implemented. We believe that blood and urine filter paper biochemical follow-up, together with online or telephone clinical assessments, can help minimize the need for in-hospital visits.

scholarly journals Discovery of Biomarker Panels for Neural Dysfunction in Inborn Errors of Amino Acid Metabolism

2019 ◽  
Vol 9 (1) ◽  
Author(s):  
Alba-Aina Castells ◽  
Daniela Gueraldi ◽  
Rafel Balada ◽  
Alba Tristán-Noguero ◽  
Elisenda Cortès-Saladelafont ◽  
...  
Keyword(s):  
Amino Acid ◽  
Amino Acid Metabolism ◽  
Acid Metabolism ◽  
Inborn Errors ◽  
Neural Dysfunction

Inborn errors of amino acid metabolism in North India

1994 ◽  
Vol 17 (2) ◽  
pp. 230-233 ◽  
Author(s):  
Manjeet Kaur ◽  
Ganesh Das Prasad ◽  
Ishwar Chander Verma
Keyword(s):  
Amino Acid ◽  
Amino Acid Metabolism ◽  
Acid Metabolism ◽  
North India ◽  
Inborn Errors

A Rapid and Simple Thin-Layer Chromatographic Method for Amino Acids in Blood

1969 ◽  
Vol 15 (9) ◽  
pp. 902-907 ◽  
Author(s):  
William J Culley
Keyword(s):  
Amino Acids ◽  
Amino Acid ◽  
Thin Layer ◽  
Paper Chromatography ◽  
Amino Acid Metabolism ◽  
Chromatographic Method ◽  
Acid Metabolism ◽  
Inborn Errors ◽  
Chromatographic Methods ◽  
Finger Tip

Abstract Simple and rapid thin-layer chromatographic methods, using heel or finger-tip blood, are described that are suitable for screening for inborn errors of amino acid metabolism. Serum is chromatographed without deproteinizing. A variation of this method utilizes blood impregnated on paper discs for chromatography. These methods are much faster, more sensitive, and provide better resolution of amino acids than paper chromatography. Because untreated serum- or blood-impregnated discs are placed directly on thin-layer chromatograms, these methods require considerably less working time than other thin-layer chromatographic methods.

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