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

M Imaeda; S Sumi; S Ohba; K Kidouchi; K Kodama; S Fujimoto; H Togari; Y Wada

doi:10.1620/tjem.190.23

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

M Imaeda·S Sumi·S Ohba·K Kidouchi·K Kodama·S Fujimoto·H Togari·Y Wada

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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.

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Drug Stability Humans Infant Infant, Newborn Mass Screening Metabolic Diseases Pilot Projects Pyrimidines Reference Values Sensitivity and Specificity Journal Article

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M Imaeda, S Sumi, S Ohba, K Kidouchi, K Kodama, S Fujimoto, H Togari, Y Wada. 2000. Screening for pyrimidine metabolism disorders using dried filter-paper urine samples: method development and a pilot study in Nagoya City, Japan.. https://doi.org/10.1620/tjem.190.23

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