title: 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.affiliation: Department of Pediatrics, Shimane Medical University, Izumo, Japan.
authors.forename: X
authors.initials: X
authors.lastname: Fu
authors.forename: M
authors.initials: M
authors.lastname: Kimura
authors.forename: M
authors.initials: M
authors.lastname: Iga
authors.forename: S
authors.initials: S
authors.lastname: Yamaguchi
mesh_terms: D000143:Acids / Q000097:blood*; D000272:Adipates / Q000097:blood* / Q000652:urine; D008401:Gas Chromatography-Mass Spectrometry / Q000379:methods*; D006801:Humans; D008375:Maple Syrup Urine Disease / Q000097:blood / Q000175:diagnosis* / Q000652:urine; D010209:Paper; D012015:Reference Standards; D015203:Reproducibility of Results
chemical_list: D000143:Acids; D000272:Adipates; C001918:alpha-ketoadipic acid