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

R. I. Kelley, J. N. Stamas

Research output: Contribution to journalArticle

Abstract

A method for quantification of N-acetyl-l-aspartic acid by isotope dilution gas chromatography-mass spectrometry using15N-[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 of N-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 urinary N-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 of N-acetyl-l-aspartic acid is about one-tenth of that in urine.

Original languageEnglish (US)
Pages (from-to)97-104
Number of pages8
JournalJournal of Inherited Metabolic Disease
Volume15
Issue number1
DOIs
StatePublished - Jan 1992

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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