Mahdieh Medical Diagnostic Centre, Isfahan, Iran.
Department of Plant and Animal Biology, Faculty of Biological Science and Technology, University of Isfahan, Isfahan, Iran.
Acta Biochim Pol. 2020 Sep 14;67(3):347-351. doi: 10.18388/abp.2020_5164.
Argininosuccinic aciduria is an autosomal, recessive amino acid disorder that is caused by a deficiency of the argininosuccinate lyase enzyme. Citrulline is the most significant marker to detect this disorder. We used the High-performance liquid chromatography with fluorescence detection with 450 nm emission and 330 nm excitation wavelengths, 15 mmol/L potassium dihydrogen phosphate and 5 mmol/L dipotassium hydrogen phosphate as Mobile Phase A, and 50 mL water, 250 mL acetonitrile, and 200 mL methanol as Mobile Phase B in gradient mode with flow rate of 1.2 mL/min. The citrulline concentration was 22 µmol/L in healthy infants and 220 µmol/L in infants suffering from the disorder.
精氨琥珀酸尿症是一种常染色体隐性遗传氨基酸代谢紊乱疾病，由精氨琥珀酸裂解酶缺乏引起。精氨酸是检测这种疾病的最重要的标志物。我们采用高效液相色谱法，荧光检测，激发波长 330nm，发射波长 450nm，以 15mmol/L 磷酸二氢钾和 5mmol/L 磷酸氢二钾为流动相 A，以 50mL 水、250mL 乙腈和 200mL 甲醇为梯度流动相 B，流速为 1.2mL/min。健康婴儿的精氨酸浓度为 22μmol/L，而患有该疾病的婴儿的精氨酸浓度为 220μmol/L。
