Publication details
Method development of amino acids profiling for pyridoxine dependent epileptic seizures diagnosis
| Authors | |
|---|---|
| Year of publication | 2012 |
| Type | Article in Proceedings |
| Conference | 9th International Interdisciplinary Meeting on Bioanalysis |
| MU Faculty or unit | |
| Citation | |
| Web | Sborník v elektronické podobě |
| Field | Biochemistry |
| Keywords | pyridoxine dependent epilepsy; capillary electrophoresis; contactless conductivity detection |
| 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. 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. |
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