Gas chromatographic-mass spectrometric screening for organic acidemias using dried urine filter paper: Determination of α-ketoacids

Xiaowei Fu, Masahiko Kimura, Misako Iga, Seiji Yamaguchi

Research output: Contribution to journalArticle

20 Citations (Scopus)

Abstract

There are several organic acid disorders that require information on α-ketoacids, such as maple syrup urine disease or α-ketoadipic acidemia. The recovery, stability and diagnostic availability of α-ketoacids in dried urine filter paper analyzed by GC-MS with oxime-trimethylsilyl derivatization was studied for organic acidemia screening. The recovery of all nine types of α-ketoacids tested, but for phenylpyruvate, 2-ketoadipate, and p-OH-phenylpyruvate, from filter paper samples was acceptable. The stability of pyruvate, branched-chain α-ketoacids, α-ketoadipate and α-ketoglutarate was stable for at least 28 days, although some α-ketoacids such as succinylacetone were unstable. It indicated it was difficult to diagnose only tyrosinemia type 1 among nine specimens from organic acidemia patients tested. The method could be applied to global organic acidemia screening.

Original languageEnglish (US)
Pages (from-to)87-94
Number of pages8
JournalJournal of Chromatography B: Biomedical Sciences and Applications
Volume758
Issue number1
DOIs
StatePublished - Jul 5 2001

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Screening
Gases
Recovery
Oximes
Organic acids
Pyruvic Acid
Availability
phenylpyruvic acid
hydroxide ion
succinylacetone

All Science Journal Classification (ASJC) codes

  • Chemistry(all)

Cite this

Gas chromatographic-mass spectrometric screening for organic acidemias using dried urine filter paper : Determination of α-ketoacids. / Fu, Xiaowei; Kimura, Masahiko; Iga, Misako; Yamaguchi, Seiji.

In: Journal of Chromatography B: Biomedical Sciences and Applications, Vol. 758, No. 1, 05.07.2001, p. 87-94.

Research output: Contribution to journalArticle

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