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Identification of N ‐acetyl‐α‐aminoadipic acid in the urine of a patient with α‐aminoadipic and α‐ketoadipic aciduria
Author(s) -
Takechi T.,
Okada T.,
Wakiguchi H.,
Morita H.,
Kurashige T.,
Sugahara K.,
Kodama H.
Publication year - 1993
Publication title -
journal of inherited metabolic disease
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.462
H-Index - 102
eISSN - 1573-2665
pISSN - 0141-8955
DOI - 10.1007/bf00711325
Subject(s) - urine , chemistry , amino acid , chromatography , creatinine , hydrolysate , biochemistry , hydrolysis
Summary A 3.5‐year‐old Japanese boy with a mild speech disturbance excreted a large amount of α‐aminoadipic acid into the urine. The amino acid analysis using an amino acid analyser confirmed the presence of α‐aminoadipic acid in both urine and plasma. We detected α‐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‐α‐aminoadipic acid using liquid chromatography‐atmospheric pressure ionization mass spectrometry (LC‐API‐MS). The concentrations of α‐aminoadipic acid and N ‐acetyl‐α‐aminoadipic acid in the urine of a patient with α‐aminoadipic aciduria were 376.9 nmol/mg creatinine and 18.1 nmol/mg creatinine, respectively. We also detected α‐ketoadipic acid in the urine of this patient using LC‐API‐MS.