Aim:
L-2-hydroxyglutaric aciduria (L2HGA) which is autosomal recessive and characterized by psychomotor retardation, cerebellar ataxia, variable macrocephaly, and epilepsy is a rarely seen neurometabolic disease. The disease is biochemically identified by slightly increased L-2HGA levels in urine, cerebrospinal fluid, and plasma.
Materials and Methods:
A sensitive and rapid capillary electrophoretic technique was used for the determination of L2HGA in urine. Since the L2HGA lacks of chromophore, an indirect UV detection method was applied.
Results:
The running electrolyte consisted of 10 mmol/L 2,6-pyridinedicarboxylic acid (PDC) at pH 5.6 containing 0.1 mmol/L of cetyltrimethylammonium bromide (CTAB). PDC was chosen because of its good chromophoric property for indirect UV detection. CTAB was used as electro-osmotic flow (EOF) reversal. The method was well-validated in the selected conditions. The detection limit of the method L2HGA was 1.16 μmol/L. The migration time of L2HGA was less than 2.0 min.
Conclusion:
The developed method was applied to the urine samples collected from 16 patients who suffer from L-2-hydroxyglutaric aciduria and 4 healthy volunteers.
Keywords: Capillary electrophoresis, indirect UV detection, L-2-hydroxyglutaric acid, L-2-hydroxyglutaric aciduria, urine