Identification of N-acetyl-alpha-aminoadipic acid in the urine of a patient with alpha-aminoadipic and alpha-ketoadipic aciduria.
A 3.5-year-old Japanese boy with a mild speech disturbance excreted a large amount of alpha-aminoadipic acid into the urine. The amino acid analysis using an amino acid analyser confirmed the presence of alpha-aminoadipic acid in both urine and plasma. We detected alpha-aminoadipic acid in the hydrolysate of the effluent and washwater fraction through cation exchange resin. This suggested the presence of acetylated derivatives and we identified N-acetyl-alpha-aminoadipic acid using liquid chromatography-atmospheric pressure ionization mass spectrometry (LC-API-MS). The concentrations of alpha-aminoadipic acid and N-acetyl-alpha-aminoadipic acid in the urine of a patient with alpha-aminoadipic aciduria were 376.9 nmol/mg creatinine and 18.1 nmol/mg creatinine, respectively. We also detected alpha-ketoadipic acid in the urine of this patient using LC-API-MS.
Takechi
T
T
Department of Pediatrics, Kochi Medical School, Japan.
Okada
T
T
Wakiguchi
H
H
Morita
H
H
Kurashige
T
T
Sugahara
K
K
Kodama
H
H
D015074:2-Aminoadipic Acid / Q000031:analogs & derivatives / Q000652:urine*; D000107:Acetylation; D000272:Adipates / Q000652:urine*; D000596:Amino Acids / Q000652:urine; D002675:Child, Preschool; D002851:Chromatography, High Pressure Liquid; D006801:Humans; D008297:Male; D013058:Mass Spectrometry; D008661:Metabolism, Inborn Errors / Q000150:complications / Q000652:urine*; D013064:Speech Disorders / Q000150:complications / Q000652:urine
D000272:Adipates; D000596:Amino Acids; D015074:2-Aminoadipic Acid; C001918:alpha-ketoadipic acid