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Updated: Jun 14, 2026

One-step Metabolomics: Carbohydrates, Organic and Amino Acids Quantified in a Single Procedure
Published on: June 25, 2010
Simplified method for the chemical diagnosis of organic aciduria using GC/MS
Katsuhiro Nakagawa1, Shuichi Kawana, Yuki Hasegawa
1Department of Pediatrics, Shimane University School of Medicine, 89-1 En-ya-cho, Izumo, Shimane 693-8501, Japan. nk@shimadzu.co.jp
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.
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