Urinary excretion of orotic acid, orotidine and other pyrimidines in a patient with purine nucleoside phosphorylase deficiency

Clinica Chimica Acta; International Journal of Clinical Chemistry
A H Van GennipS K Wadman

Abstract

Urinary orotidine and orotic acid have been determined in a patient with purine nucleoside phosphorylase (PNP) deficiency under various dietary therapeutic conditions. For this purpose a new procedure for the analysis of both compounds has been developed, consisting of prefractionation with Dowex 1X8, followed by two HPLC steps on a micro Bondapak NH2 and a micro Bondapak C18 column. With this method normal as well as slightly elevated excretions of orotic acid have been found in our patient. No evidence was obtained for inhibition of OPRT by purine (deoxy)nucleosides as a cause of pyrimidine starvation. A significant increase of urinary orotidine was found after loading with allopurinol. For comparison excretory values in a patient with ornithine transcarbamylase deficiency and also in a patient with orotic aciduria type I are shown. The possible cause of the slight increase in urinary orotic acid in our patient has been discussed.

References

Nov 22, 1975·Lancet·R V HeatleyR G Newcombe
May 15, 1977·Analytical Biochemistry·R I Christopherson, L R Finch
Feb 1, 1977·Clinica Chimica Acta; International Journal of Clinical Chemistry·L H Siegenbeek Van HeukelomS K Wadman
Oct 15, 1977·Biochemical Pharmacology·G K Brown, W J O'Sullivan
May 13, 1972·Lancet·B S Raheja
Nov 1, 1969·The Journal of Pediatrics·D M BecroftA Simmonds
Feb 1, 1969·Analytical Biochemistry·B E BonnelyckeS L Miller

Citations

Jan 1, 1981·Journal of Inherited Metabolic Disease·D R WebsterD M Becroft
Jun 10, 1980·Clinica Chimica Acta; International Journal of Clinical Chemistry·A H Van GennipS K Wadman
Jun 15, 1987·Clinica Chimica Acta; International Journal of Clinical Chemistry·A H Van GennipP A Voûte
Nov 27, 2002·Journal of Chromatography. B, Analytical Technologies in the Biomedical and Life Sciences·C Salerno, C Crifò
Oct 1, 1990·Clinical Biochemistry·C van der Heiden
Apr 1, 1984·Journal of Dairy Science·W TiemeyerD Giesecke

Related Concepts

Caplenal
High Pressure Liquid Chromatography Procedure
Deoxycytidine
Orotate Phosphoribosyltransferase
Zinc Orotate
OROTIDINE-5'-PHOSPHATE Decarboxylase
Pentosyltransferase
Nicotinamide Riboside Phosphorylase
Purine-Pyrimidine Metabolism, Inborn Errors
Upper Respiratory Infections

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