Screening for Pyrimidine Metabolism Disorders Using Dried Filter-Paper Urine Samples : Method Development and a Pilot Study in Nagoya City, Japan

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A screening system for pyrimidine metabolism disorders by measurement with high-performance liquid chromatography using dried filter-paper urine samples is presented. This system permits the simultaneous determination of dihydrouracil, uracil, orotic acid and pseudouridine. The coefficient of variations for the four compounds on the filter-paper urine samples were 0.010∼0.069 and the recoveries were 98.5∼107.1%. The detection limits of the four compounds were 2∼20 μmol/liter. The correlation between the filter-paper urine samples and liquid urine samples was excellent (0.938-0.988). We supeculated that this method could be used to detect pyrimidine metabolism disorders, such as dihydropyrimidinuria, dihydropyrimidine dehydrogenase deficiency and hereditary orotic aciduria. As a pilot study, we have analyzed dried filter-paper urine samples from 34 200 healthy Japanese, and found three cases of dihydropyrimidinuria without clinical symptoms.

収録刊行物

  • THE TOHOKU JOURNAL OF EXPERIMENTAL MEDICINE

    THE TOHOKU JOURNAL OF EXPERIMENTAL MEDICINE 190(1), 23-32, 2000-01-01

    東北ジャーナル刊行会

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各種コード

  • NII論文ID(NAID)
    10013014354
  • NII書誌ID(NCID)
    AA00863920
  • 本文言語コード
    ENG
  • 資料種別
    ART
  • ISSN
    00408727
  • データ提供元
    CJP書誌  CJP引用  J-STAGE 
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