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SM ISO690:2012 HLISTUN, Victoria, EFREMOV, Egor, BLĂNIŢĂ, Daniela, BOICIUC, Chiril, UŞURELU, Natalia. The importance of plasma amino acid profile in the diagnosis of inboorn errors of metabolism. In: Cercetarea în biomedicină și sănătate: calitate, excelență și performanță, Ed. 1, 20-22 octombrie 2021, Chişinău. Chișinău, Republica Moldova: 2021, p. 21. ISBN 978-9975-82-223-7 (PDF).. |
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Cercetarea în biomedicină și sănătate: calitate, excelență și performanță 2021 | ||||||
Conferința "Cercetarea în biomedicină și sănătate: calitate, excelență și performanță" 1, Chişinău, Moldova, 20-22 octombrie 2021 | ||||||
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Background. Inborn errors of metabolism (IEM) make up a large group of disorders caused by an inherited defect of proteins that have enzymatic, carrier, receptor or structural roles. Early recognition and intervention are essential to avoiding disastrous consequences associated with IEM. Objective of the study. The objective of the study was to appreciate the importance of plasma amino acids (AA) in the diagnosis of IEM. Material and Methods. Plasma amino acids quantification was performed by high performance liquid chromatography (HLPC), Na-type, using Shimadzu LC-20 with post column derivatization with OPA and fluorescence detector, in 14 children with clinical signs specific for a metabolic disorders. Results. The chromatograms obtined by HPLC show abnormal levels of plasma amino acid in 3 patients(21%). High concentration of phenylalanine (1568μmol/L) has been identified in 1 patient, being suggestive for phenylketonuria, that was suspected after neonatal screening results (Phe>3mg/dL). The second patient was subjected to HPLC because of frequent metabolic crises with severe lactic acidosis. As result, high level of alanine (Ala) has been observed(572μmol/L). The next child showed severe lactic acidosis, metabolic decompensation after virosis. The results elucidated high level of Ala(575μmol/L). The obtained data (high Ala level) suggest the mitochondrial involvement. Conclusion. Quantitative analysis of amino acids is an essential step in the work-up for metabolic disorders. It helps to diagnose aminoacidopathies and narrow the spectrum of other IEM. |
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Cuvinte-cheie amino acids, liquid chromatography, inborn errors of metabolism, aminoacizi, cromatografie lichidă, erori înnăscute de metabolism |
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