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

Citation
M. Imaeda et al., Screening for pyrimidine metabolism disorders using dried filter-paper urine samples: Method development and a pilot study in Nagoya City, Japan, TOH J EX ME, 190(1), 2000, pp. 23-32
Citations number
9
Language
INGLESE
art.tipo
Article
Categorie Soggetti
Medical Research General Topics
Journal title
TOHOKU JOURNAL OF EXPERIMENTAL MEDICINE
ISSN journal
0040-8727 → ACNP
Volume
190
Issue
1
Year of publication
2000
Pages
23 - 32
Database
ISI
SICI code
0040-8727(200001)190:1<23:SFPMDU>2.0.ZU;2-D
Abstract
A screening system for pyrimidine metabolism disorders by measurement with highperformance liquid chromatography using dried filter-paper urine sample s is presented. This system permits the simultaneous determination of dihyd rouracil, uracil, orotic acid and pseudouridine. The coefficient of variati ons for the four compounds on the filter-paper urine samples were 0.010 sim ilar to 0.069 and the recoveries were 98.5 similar to 107.1%. The detection limits of the four compounds were 2 similar to 20 mu mol/liter. The correl ation between the filter-paper urine samples and liquid urine samples mas e xcellent (0.938-0.988). We supeculated that this method could be used to de tect pyrimidine metabolism disorders, such as dihydropyrimidinuria, dihydro pyrimidine dehydrogenase deficiency and hereditary orotic aciduria. As a pi lot study, we have analyzed dried filter-paper urine samples from 34 200 he althy Japanese, and found three cases of dihydropyrimidinuria without clini cal symptoms.