Open AccessDetermination of amino acid profile for argininosuccinic aciduria disorder using High-Performance Liquid Chromatography with fluorescence detection
Author(s) -
Hossein Salmanizadeh,
Neda Sahi
Publication year - 2020
Publication title -
acta biochimica polonica
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.452
H-Index - 78
eISSN - 1734-154X
pISSN - 0001-527X
DOI - 10.18388/abp.2020_5164
Subject(s) - chemistry , high performance liquid chromatography , argininosuccinate lyase , chromatography , fluorescence , citrulline , potassium , argininosuccinate synthase , hydrogen phosphate , phosphate , amino acid , biochemistry , arginine , organic chemistry , physics , quantum mechanics , urea cycle
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.