Gas chromatographic-mass spectrometric screening for organic acidemias using dried urine filter paper: determination of alpha-ketoacids.

Abstract

There are several organic acid disorders that require information on alpha-ketoacids, such as maple syrup urine disease or alpha-ketoadipic acidemia. The recovery, stability and diagnostic availability of alpha-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 alpha-ketoacids tested, but for phenylpyruvate, 2-ketoadipate, and p-OH-phenylpyruvate, from filter paper samples was acceptable. The stability of pyruvate, branched-chain alpha-ketoacids, alpha-ketoadipate and alpha-ketoglutarate was stable for at least 28 days, although some alpha-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.

• Authors: X Fu, M Kimura, M Iga, S Yamaguchi
• Journal: Journal of chromatography. B, Biomedical sciences and applications (J Chromatogr B Biomed Sci Appl) Vol. 758 Issue 1 Pg. 87-94 (Jul 05 2001) ISSN: 1387-2273 [Print] Netherlands
• PMID: 11482739 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't)

Chemical References

• Acids
• Adipates
• alpha-ketoadipic acid

Topics

• Acids (blood)
• Adipates (blood, urine)
• Gas Chromatography-Mass Spectrometry (methods)
• Humans
• Maple Syrup Urine Disease (blood, diagnosis, urine)
• Paper
• Reference Standards
• Reproducibility of Results