Urinary pyrimidine analysis in healthy newborns, infants, children, adultsand patients with congenital metabolic diseases

Citation
M. Asai et al., Urinary pyrimidine analysis in healthy newborns, infants, children, adultsand patients with congenital metabolic diseases, PEDIATR INT, 42(5), 2000, pp. 499-503
Citations number
15
Language
INGLESE
art.tipo
Article
Categorie Soggetti
Pediatrics
Journal title
PEDIATRICS INTERNATIONAL
ISSN journal
1328-8067 → ACNP
Volume
42
Issue
5
Year of publication
2000
Pages
499 - 503
Database
ISI
SICI code
1328-8067(200010)42:5<499:UPAIHN>2.0.ZU;2-X
Abstract
Background: In previous reports, the reference range for urinary pyrimidine was determined on the basis of a small number of samples, with data for on ly a few patients being reported. In the present study, we measured urinary pyrimidine compounds in 25 healthy newborns, 33 healthy infants, 130 healt hy children and 166 healthy adults. In addition, we also analyzed urinary p yrimidine compounds in various patients with abnormal pyrimidine metabolism , such as congenital pyrimidine metabolism disorders and urea cycle disorde rs. Methods: We analyzed urines by high-performance liquid chromatography with column switching. Analyses were performed with both a reverse-phase column and an anion-exchange column. The columns were connected by a column switch , with all systems being controlled automatically by a computerized system controller. Results: The excretion of pyrimidine compounds in patients with abnormal py rimidine metabolism (containing heterozygotes) was out of our reference ran ges. Conclusions: These results suggest that urinary pyrimidine analysis is a us eful index for the diagnosis of pyrimidine metabolism disorders, urea cycle disorders and these heterozygotes. Based on this large-group analysis of h ealthy individuals, we were able to determine the reference ranges of urina ry orotic acid, dihydrouracil and uracil for each age group.