| CELÁ, Andrea, Aleš MÁDR, Jindra MUSILOVÁ, Marta ZEISBERGEROVÁ a Zdeněk GLATZ. Method development of amino acids profiling for pyridoxine dependent epileptic seizures diagnosis. In František Foret, Jana Křenková, Andras Guttman, Karel Klepárník, Petr Boček. 9th International Interdisciplinary Meeting on Bioanalysis. Brno, Czech Republic: Institute of Analytical Chemistry AS CR, v. v. i., Veveří 97, 602 00 Brno, 2012, s. 113-116. ISBN 978-80-904959-1-3. |
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@inproceedings{1074588,
author = {Celá, Andrea and Mádr, Aleš and Musilová, Jindra and Zeisbergerová, Marta and Glatz, Zdeněk},
address = {Brno, Czech Republic},
booktitle = {9th International Interdisciplinary Meeting on Bioanalysis},
editor = {František Foret, Jana Křenková, Andras Guttman, Karel Klepárník, Petr Boček},
keywords = {pyridoxine dependent epilepsy; capillary electrophoresis; contactless conductivity detection},
howpublished = {tištěná verze "print"},
language = {eng},
location = {Brno, Czech Republic},
isbn = {978-80-904959-1-3},
pages = {113-116},
publisher = {Institute of Analytical Chemistry AS CR, v. v. i., Veveří 97, 602 00 Brno},
title = {Method development of amino acids profiling for pyridoxine dependent epileptic seizures diagnosis},
url = {http://www.ce-ce.org/cece2012/Proceedings%20CECE%202012%20Final+late%20abstracts_web.pdf},
year = {2012}
}
TY - JOUR
ID - 1074588
AU - Celá, Andrea - Mádr, Aleš - Musilová, Jindra - Zeisbergerová, Marta - Glatz, Zdeněk
PY - 2012
TI - Method development of amino acids profiling for pyridoxine dependent epileptic seizures diagnosis
PB - Institute of Analytical Chemistry AS CR, v. v. i., Veveří 97, 602 00 Brno
CY - Brno, Czech Republic
SN - 9788090495913
KW - pyridoxine dependent epilepsy
KW - capillary electrophoresis
KW - contactless conductivity detection
UR - http://www.ce-ce.org/cece2012/Proceedings%20CECE%202012%20Final+late%20abstracts_web.pdf
L2 - http://www.ce-ce.org/cece2012/Proceedings%20CECE%202012%20Final+late%20abstracts_web.pdf
N2 - 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. The subject of this contribution is the presentation of the method for the amino acid profiling of human serum samples based on capillary electrophoresis coupled with capacitively coupled contactless conductivity detection.
ER -
CELÁ, Andrea, Aleš MÁDR, Jindra MUSILOVÁ, Marta ZEISBERGEROVÁ a Zdeněk GLATZ. Method development of amino acids profiling for pyridoxine dependent epileptic seizures diagnosis. In František Foret, Jana Křenková, Andras Guttman, Karel Klepárník, Petr Boček. \textit{9th International Interdisciplinary Meeting on Bioanalysis}. Brno, Czech Republic: Institute of Analytical Chemistry AS CR, v. v. i., Veveří 97, 602 00 Brno, 2012, s.~113-116. ISBN~978-80-904959-1-3.
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