Abstract
Detailed biochemical studies have been carried out in a female heterozygote for ornithine carbamoyltransferase (OCT) deficiency. Increased levels of the pyrimidines, orotic acid, uridine and uracil, were observed in plasma as well as urine by utilizing an adaptation of high performance liquid chromatography (HPLC). Urinary clearances of these compounds were high, that of orotic acid indicating net secretion. Urinary uric acid clearance was also elevated, a finding attributed to the uricosuric effect of the orotic acid excreted concomitantly. The results in this child and her family are typical of OCT deficiency. They confirm considerable genetic heterogeneity in the biochemical as well as clinical expression in this defect.
Similar content being viewed by others
References
Beaudet, A. L., Michels, V. V. and O'Brien, W. E. Drug induced orotic aciduria for treatment of ornithine transcarbamylase (OTC) deficiency.Am. J. Hum. Genet. 30 (1978) 21a
Fox, R. M., Wood, M. H. and O'Sullivan, W. J. Studies on the co-ordinate activity and lability of orotidylate phosphoribosyltransferase and decarboxylase in human erythrocytes and the effects of allopurinol administration.J. Clin. Invest. 50 (1971) 1050–1060
van Gennip, A. H., Grift, J., De Bree, P. K., Zegers, B. J. M., Stoop, J. W. and Wadman, S. K. Urinary excretion of orotic acid, orotidine and other pyrimidines in a patient with purine nucleoside phosphorylase deficiency.Clin. Chim. Acta 93 (1979) 419–428
Goldfinger, S., Klinenberg, J. R. and Seegmiller, J. E. The renal excretion of oxypurines.J. Clin. Invest. 44 (1965) 623–628
Goldstein, A. S., Hoogenraad, N. J., Johnson, J. D., Fukanga, K., Swierczewski, E., Cann, H. M. and Sunshine, P. Metabolic and genetic studies of a family with ornithine transcarbamylase deficiency.Paediatr. Res. 8 (1974) 5–12
La Brecque, D. R., Latham, P. S., Riely, C. A., Hsia, Y. E. and Klatskin, G. Heritable urea cycle deficiency—liver disease in 16 patients.J. Pediatr. 94 (1979) 580–587
Levin, B., Oberholzer, V. G. and Sinclair, L. Biochemical investigation of hyperammonemia.Lancet 2 (1969) 170–174
Leyva, A., Schornagel, J. and Pinedo, H. M. High performance liquid chromatography of plasma pyrimidines and purines and its application in cancer chemotherapy. In Rapado, A., Watts, R. W. E. and De Bruyn, C. M. M. (eds.)Purine Metabolism in Man—III, Plenum Press, New York, vol. 122b, 1979, pp. 389–394
MacLeod, P., Mackenzie, S. and Scriver, C. R. Partial ornithine carbamyl transferase deficiency: an inborn error of the urea cycle presenting as orotic aciduria in a male infant.Can. Med. Assoc. J. 107 (1972) 405–408
Morley, C. and Sardharwalla, I. B. Case of hyperammonemia due to ornithine transcarbamylase deficiency.Arch. Dis. Child. 49 (1974) 747
Pfister, C. and Craan, P. J. Action de l'allopurinol sur l'hyperammoniacémie artérielle de certaines insuffisances hépatiques.Rev. Med. Suisse Romande 90 (1970) 547–550
Sheffield, L. J., Danks, D. M., Hammond, J. W. and Hoogenraad, N. J. Massive pulmonary haemorrhage as a presenting feature in congenital hyperammonemia.J. Paediatr. 88 (1976) 450–452
Shih, V. E. Urea cycle disorders and other congenital hyperammonemic syndromes. In Stanbury, J. B., Wyngaarden, J. B. and Frederickson, D. S. (eds.)The Metabolic Basis of Inherited Disease, McGraw-Hill, 4th edn., 1978, pp. 368–371
Simmonds, H. A. Two-dimensional thin-layer high-voltage electrophoresis, and chromatography for the separation of urinary purines, pyrimidines and pyrazolopyrimidines.Clin. Chim. Acta 23 (1969) 319–330
Simmonds, H. A., Webster, D. R., Becroft, D. M. O. and Potter, C. F. Purine and pyrimidine metabolism in hereditary orotic aciduria—some unexpected effects of allopurinol.Eur. J. Clin. Invest. 10 (1980) 333–339
Snyderman, S. E., Sansaricq, C., Phansalkar, S. V., Schacht, R. G. and Norton, P. M. The therapy of hyperammonemia due to ornithine transcarbamylase deficiency in a male neonate.Pediatrics 56 (1975) 65–73
Author information
Authors and Affiliations
Rights and permissions
About this article
Cite this article
Webster, D.R., Simmonds, H.A., Barry, D.M.J. et al. Pyrimidine and purine metabolites in ornithine carbamoyl transferase deficiency. J Inherit Metab Dis 4, 27–31 (1981). https://doi.org/10.1007/BF02263578
Received:
Accepted:
Issue Date:
DOI: https://doi.org/10.1007/BF02263578