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Quantification ofN-acetyl-l-aspartic acid in urine by isotope dilution gas chromatography-mass spectrometry

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Journal of Inherited Metabolic Disease

Summary

A method for quantification ofN-acetyl-l-aspartic acid by isotope dilution gas chromatography-mass spectrometry using15 N-[2H3]acetyl-l-aspartic acid is described. The method is sufficiently sensitive to be used with solvent extraction techniques commonly employed for urinary organic acid analysis. The mean concentration ofN-acetyl-l-aspartic acid in 80 normal and abnormal control urine specimens was 19.7±10.8 mg/g creatinine (12.7±7.8 mmol/mol creatinine). Seven patients, ages 9 months to 7 years, with Canavan-van Bogaert syndrome had urinaryN-acetyl-l-aspartic acid levels from 606 to 4760 mg/g creatinine. The method can also be used with cerebrospinal fluid, in which the concentration ofN-acetyl-l-aspartic acid is about one-tenth of that in urine.

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Authors and Affiliations

  1. Department of Pediatrics, Johns Hopkins University School of Medicine, 701 North Broadway, 21205, Baltimore, MD, USA

    R. I. Kelley & J. N. Stamas

  2. the Division of Neurogenetics, The Kennedy Institute, 701 North Broadway, 21205, Baltimore, MD, USA

    R. I. Kelley & J. N. Stamas

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  1. R. I. Kelley
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  2. J. N. Stamas
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Kelley, R.I., Stamas, J.N. Quantification ofN-acetyl-l-aspartic acid in urine by isotope dilution gas chromatography-mass spectrometry. J Inherit Metab Dis 15, 97–104 (1992). https://doi.org/10.1007/BF01800351

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  • DOI: https://doi.org/10.1007/BF01800351

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