Urinary pyrimidine analysis in healthy newborns, infants, children, adults and patients with congenital metabolic diseases.
BACKGROUND
In previous reports, the reference range for urinary pyrimidine was determined on the basis of a small number of samples, with data for only a few patients being reported. In the present study, we measured urinary pyrimidine compounds in 25 healthy newborns, 33 healthy infants, 130 healthy children and 166 healthy adults. In addition, we also analyzed urinary pyrimidine compounds in various patients with abnormal pyrimidine metabolism, such as congenital pyrimidine metabolism disorders and urea cycle disorders.


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 pyrimidine metabolism (containing heterozygotes) was out of our reference ranges.


CONCLUSIONS
These results suggest that urinary pyrimidine analysis is a useful index for the diagnosis of pyrimidine metabolism disorders, urea cycle disorders and these heterozygotes. Based on this large-group analysis of healthy individuals, we were able to determine the reference ranges of urinary orotic acid, dihydrouracil and uracil for each age group.
Asai
M
M
Department of Pediatrics Nagoya City University Medical School, Nagoya, Japan.
Sumi
S
S
Kidouchi
K
K
Imaeda
H
H
Togari
H
H
Wada
Y
Y
D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D002853:Chromatography, Liquid; D006801:Humans; D007223:Infant; D007231:Infant, Newborn / Q000652:urine*; D008661:Metabolism, Inborn Errors / Q000378:metabolism / Q000652:urine*; D009963:Orotic Acid / Q000652:urine; D011743:Pyrimidines / Q000378:metabolism* / Q000652:urine*; D014498:Uracil / Q000652:urine
D011743:Pyrimidines; D014498:Uracil; D009963:Orotic Acid; C030986:pyrimidine