Determination of amino acid profile for argininosuccinic aciduria disorder using High-Performance Liquid Chromatography with fluorescence detection

  • Hossein Salmanizadeh Mahdieh Medical Diagnostic Centre, Isfahan, Iran
  • Neda Sahi Department of Plant and Animal Biology, Faculty of Biological Science and Technology, University of Isfahan, Isfahan, Iran


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.