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Simplified method for the chemical diagnosis of organic aciduria using GC/MS.

Abstract
GC/MS is widely used for the analysis of urinary organic acids for the chemical diagnosis of organic acidurias such as methylmalonic acidemia, propionic acidemia, isovaleric acidemia, glutaric aciduria type I, and multiple carboxylase deficiency. In this study, a rapid and simple preparation method for this analysis was developed in order to improve the laboratory productivity and the working environment. The solvent extraction and trimethylsilyl derivatization steps of the conventional method were improved by reducing the volume of urine sample and extraction solvent and by applying the flash-heater derivatization, respectively. The new method was successfully applied to the chemical diagnoses of five organic acidurias.
AuthorsKatsuhiro Nakagawa, Shuichi Kawana, Yuki Hasegawa, Seiji Yamaguchi
JournalJournal of chromatography. B, Analytical technologies in the biomedical and life sciences (J Chromatogr B Analyt Technol Biomed Life Sci) Vol. 878 Issue 13-14 Pg. 942-8 (Apr 15 2010) ISSN: 1873-376X [Electronic] Netherlands
PMID20303325 (Publication Type: Journal Article)
CopyrightCopyright 2010 Elsevier B.V. All rights reserved.
Chemical References
  • Acids
Topics
  • Acids (urine)
  • Gas Chromatography-Mass Spectrometry (methods)
  • Humans
  • Metabolism, Inborn Errors (diagnosis)
  • Reference Standards

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