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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- Imaeda Masayuki
- Department of Pediatrics, Nagoya City University Medical School
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- Sumi Satoshi
- Department of Pediatrics, Nagoya City University Medical School
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- Ohba Satoru
- Department of Pediatrics, Nagoya City University Medical School
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- Kidouchi Kiyoshi
- Department of Pediatrics, Nagoya City Higashi General Hospital
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- Kodama Kyoko
- Nagoya City Public Health Reseach Institute
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- Fujimoto Shinji
- Department of Pediatrics, Nagoya City University Medical School
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- Togari Hajime
- Department of Pediatrics, Nagoya City University Medical School
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- Wada Yoshiro
- Department of Pediatrics, Nagoya City University Medical School
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抄録
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
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- The Tohoku Journal of Experimental Medicine
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The Tohoku Journal of Experimental Medicine 190 (1), 23-32, 2000
東北ジャーナル刊行会
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詳細情報 詳細情報について
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- CRID
- 1390282679217236992
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- NII論文ID
- 10013014354
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- NII書誌ID
- AA00863920
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- COI
- 1:CAS:528:DC%2BD3cXis1Gqtbo%3D
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- ISSN
- 13493329
- 00408727
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- PubMed
- 10750737
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- 本文言語コード
- en
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- データソース種別
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- JaLC
- Crossref
- PubMed
- CiNii Articles
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- 抄録ライセンスフラグ
- 使用不可