Method development of amino acids profiling for pyridoxine dependent epileptic seizures diagnosis

Result code in IS VaVaI
<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00216224%3A14310%2F12%3A00057846" target="_blank" >RIV/00216224:14310/12:00057846 - isvavai.cz</a>
Result on the web
<a href="http://www.ce-ce.org/cece2012/Proceedings%20CECE%202012%20Final+late%20abstracts_web.pdf" target="_blank" >http://www.ce-ce.org/cece2012/Proceedings%20CECE%202012%20Final+late%20abstracts_web.pdf</a>
DOI - Digital Object Identifier
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Result language
angličtina
Original language name
Method development of amino acids profiling for pyridoxine dependent epileptic seizures diagnosis
Original language description
Some epileptic seizures are related to metabolic disorders affecting availability of pyridoxal-phosphate (PLP). Pyridoxine dependent epilepsy is caused by increase in the PLP utilization/inactivation and is associated with mutations in the ALDH7A1 and ALDH4A1 genes. PLP dependent epilepsy is caused by reduction of the PLP synthesis due to pyridoxamine 5?-phosphate oxidase deficiency. This enzyme converts pyridoxine and pyridoxamine to the PLP. The PLP prosthetic group of some enzymes is responsible foramino acid metabolism. Pyridoxine and PLP dependent epilepsies can be diagnosed by the molecular analysis of the respective genes, by the determination of reliable biomarkers in different biological fluids and by the amino acid profiling giving supplementary data. Levels of glycine, L-proline and trans-4-hydroxy-L-proline appear to be the most valid amino acids for diagnostic purposes of pyridoxine and PLP dependent epilepsies.
Czech name
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Czech description
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Project
Result was created during the realization of more than one project. More information in the Projects tab.
Continuities
P - Projekt vyzkumu a vyvoje financovany z verejnych zdroju (s odkazem do CEP)

Publication year
2012
Confidentiality
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

Article name in the collection
9th International Interdisciplinary Meeting on Bioanalysis
ISBN
9788090495913
ISSN
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e-ISSN
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Number of pages
4
Pages from-to
113-116
Publisher name
Institute of Analytical Chemistry AS CR, v. v. i., Veveří 97, 602 00 Brno
Place of publication
Brno, Czech Republic
Event location
Hotel Continental, Brno, Czech Republic
Event date
Nov 1, 2012
Type of event by nationality
WRD - Celosvětová akce
UT code for WoS article
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