title: 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.affiliation: Department of Pediatrics, Nagoya City University Medical School, Nagoya, Japan.
authors.forename: M
authors.initials: M
authors.lastname: Imaeda
authors.forename: S
authors.initials: S
authors.lastname: Sumi
authors.forename: S
authors.initials: S
authors.lastname: Ohba
authors.forename: K
authors.initials: K
authors.lastname: Kidouchi
authors.forename: K
authors.initials: K
authors.lastname: Kodama
authors.forename: S
authors.initials: S
authors.lastname: Fujimoto
authors.forename: H
authors.initials: H
authors.lastname: Togari
authors.forename: Y
authors.initials: Y
authors.lastname: Wada
mesh_terms: D004355:Drug Stability; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008403:Mass Screening / Q000379:methods* / Q000592:standards; D008659:Metabolic Diseases / Q000175:diagnosis* / Q000652:urine*; D010865:Pilot Projects; D011743:Pyrimidines / Q000737:chemistry / Q000378:metabolism* / Q000652:urine; D012016:Reference Values; D012680:Sensitivity and Specificity
chemical_list: D011743:Pyrimidines