Screening for pyrimidine metabolism disorders using dried filter-paper urine samples: method development and a pilot study in Nagoya City, Japan.

Abstract

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 approximately 0.069 and the recoveries were 98.5 approximately 107.1%. The detection limits of the four compounds were 2 approximately 20 micromol/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.

• Authors: M Imaeda, S Sumi, S Ohba, K Kidouchi, K Kodama, S Fujimoto, H Togari, Y Wada
• Journal: The Tohoku journal of experimental medicine (Tohoku J Exp Med) Vol. 190 Issue 1 Pg. 23-32 (Jan 2000) ISSN: 0040-8727 [Print] Japan
• PMID: 10750737 (Publication Type: Journal Article)

Chemical References

• Pyrimidines

Topics

• Drug Stability
• Humans
• Infant
• Infant, Newborn
• Mass Screening (methods, standards)
• Metabolic Diseases (diagnosis, urine)
• Pilot Projects
• Pyrimidines (chemistry, metabolism, urine)
• Reference Values
• Sensitivity and Specificity