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

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Attributes	Values
rdf:type	skos:Concept http://linked.opendata.cz/ontology/domain/vavai/Vysledek
rdfs:seeAlso	http://www.ce-ce.org/cece2012/Proceedings%20CECE%202012%20Final+late%20abstracts_web.pdf
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 for amino 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. 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 for amino 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. (en)
Title	Method development of amino acids profiling for pyridoxine dependent epileptic seizures diagnosis Method development of amino acids profiling for pyridoxine dependent epileptic seizures diagnosis (en)
skos:prefLabel	Method development of amino acids profiling for pyridoxine dependent epileptic seizures diagnosis Method development of amino acids profiling for pyridoxine dependent epileptic seizures diagnosis (en)
skos:notation	RIV/00216224:14310/12:00057846!RIV13-GA0-14310___
http://linked.open...avai/riv/aktivita	P
http://linked.open...avai/riv/aktivity	P(GAP206/11/0009), P(GBP206/12/G014)
http://linked.open...vai/riv/dodaniDat	2013
http://linked.open...aciTvurceVysledku	Musilová, Jindra Glatz, Zdeněk Zeisbergerová, Marta Mádr, Aleš Celá, Andrea
http://linked.open.../riv/druhVysledku	D - Článek ve sborníku
http://linked.open...iv/duvernostUdaju	S - Úplné a pravdivé údaje nepodléhající ochraně podle zvláštních právních předpisů
http://linked.open...titaPredkladatele	Masarykova univerzita / Přírodovědecká fakulta
http://linked.open...dnocenehoVysledku	149685
http://linked.open...ai/riv/idVysledku	RIV/00216224:14310/12:00057846
http://linked.open...riv/jazykVysledku	eng - angličtina
http://linked.open.../riv/klicovaSlova	pyridoxine dependent epilepsy; capillary electrophoresis; contactless conductivity detection (en)
http://linked.open.../riv/klicoveSlovo	capillary electrophoresis contactless conductivity detection pyridoxine dependent epilepsy
http://linked.open...ontrolniKodProRIV	[CAA1B09E0960]
http://linked.open...v/mistoKonaniAkce	Hotel Continental, Brno, Czech Republic
http://linked.open...i/riv/mistoVydani	Brno, Czech Republic
http://linked.open...i/riv/nazevZdroje	9th International Interdisciplinary Meeting on Bioanalysis
http://linked.open...in/vavai/riv/obor	CE
http://linked.open...ichTvurcuVysledku	5 (xsd:int)
http://linked.open...cetTvurcuVysledku	5 (xsd:int)
http://linked.open...vavai/riv/projekt	Center for advanced bioanalytical technologies Capillary electrophoresis as a member of the metabolomic analytical toolbox
http://linked.open...UplatneniVysledku	2012
http://linked.open...iv/tvurceVysledku	Glatz, Zdeněk Musilová, Jindra Zeisbergerová, Marta Celá, Andrea Mádr, Aleš
http://linked.open...vavai/riv/typAkce	WRD - Světová
http://linked.open.../riv/zahajeniAkce	2012-11-01 (xsd:date)
number of pages	4 (xsd:int)
http://purl.org/ne...btex#hasPublisher	Institute of Analytical Chemistry AS CR, v. v. i., Veveří 97, 602 00 Brno
https://schema.org/isbn	9788090495913
http://localhost/t...ganizacniJednotka	14310

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