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

J Chromatogr B Biomed Sci Appl. 2001 Jul 5;758(1):87-94. doi: 10.1016/s0378-4347(01)00101-3.

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.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

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

Substances

  • Acids
  • Adipates
  • alpha-ketoadipic acid