Abstract
A high-performance liquid-chromatographic method was used to separate and identify uracil, uridine, pseudouridine and orotic acid after preliminary extraction in two patients (McKusick 20780). Urinary uracil excretion was 10–35 times normal in both patients with arginase deficiency. Uridine and orotic acid, not normally detected, were excreted in large amounts and were directly influenced by protein intake. Their excretions were correlated with urinary arginine excretion. Urinary uracil levels remained consistently high and showed minimal variations with increased protein intake or urinary arginine levels.
The measurement of urinary pyrimidines appears to be useful for the detection, differential diagnosis and dietary monitoring of patients with urea cycle disorders. The data presented extends this observation to include patients with arginase deficiency.
Similar content being viewed by others
References
Batshaw, M., Brusilow, S. and Walser, M. Treatment of carbamyl phosphate synthetase deficiency with keto analogues of essential amino acids.N. Engl. J. Med. 292 (1975) 1085
Benson, J. V., Jr., Gordon, M. J. and Patterson, J. A. Accelerated chromatographic analysis of amino acids in physiological fluids containing glutamine and asparagine.Anal. Biochem. 18 (1967) 228
Buist, N. R. M., Kennaway, N. G., Hepburn, C. A., Stradholdm, J. J. and Ramberg, D. A. Citrullinemia: investigation and treatment over a four-year period.J. Pediatr. 85 (1974) 208
Cederbaum, S. D., Shaw, K. N. F. and Valentine, M. Hyperargininemia.J. Pediatr. 90 (1977) 569
Cederbaum, S. D., Shaw, K. N. F., Spector, E. B., Verity, M. A., Snodgrass, P. J. and Sugarman, G. I. Hyperargininemia with arginase deficiency.Pediatr. Res. 13 (1979) 827
Evans, J. E., Tieckelmann, H., Naylor, E. W. and Guthrie, R. The measurement of urinary pyrimidine bases and nucleosides by high performance liquid chromatography.J. Chrom. (Biomed. Appl.) 163 (1979) 29
Gerron, G. G., Ansley, J. D., Isaacs, J. W., Kutner, M. H. and Rudman, D. Technical pitfalls in measurement of venous plasma NH3 concentration.Clin. Chem. 22 (1976) 663
Hokanson, J. T., O'Brien, W. E., Idemoto, J. and Schafer, I. A. Carrier detection in ornithine transcarbamylase deficiency.J. Pediatr. 93 (1978) 75
Jacobs, H. A. M. and Olthuis, F. M. F. G. A kinetic determination of ammonia in plasma.Clin. Chim. Acta 43 (1973) 81
Kesner, L. The effect of ammonia administration on orotic acid excretion in rats.J. Biol. Chem. 240 (1965) 1722
Levin, B., Oberholzer, V. G. and Sinclair, L. Biochemical investigations of hyperammonemia.Lancet 2 (1969) 170
Michaels, V. V. and Beaudet, A. L. Arginase deficiency in multiple tissues in argininemia.Clin. Genet. 13 (1978) 61
Moedjono, S. J., Shaw, K. N. F. and Cederbaum, S. D. A chemically defined diet for the treatment of hyper-argininemia due to arginase deficiency.Pediatr. Res. 13 (1979) 423
Natale, P. J. and Trembley, G. D. On the availability of intra-mitochondrial carbamyl phosphate for the extramito-chondrial biosynthesis of pyrimidines.Biochem. Biophys. Res. Commun. 37 (1969) 512
Paul, T. D., Naylor, E. W. and Guthrie, R. Newborn urine screening for metabolic disease.J. Pediatr. 96 (1980) 653
Qureshi, I. A., Letarte, J., Quelley, R. and Lemieux, B. Enzymologic and metabolic studies in two families affected by argininosuccinic aciduria.Pediatr. Res. 21 (1978) 256
Shaw, K. N. F., Gutenstein, M., Jacobs, E. E. and Blaskovics, J. C. Biochemical screening and monitoring of patients with phenylketonuria and variant forms of hyperphenylalanemia. In Bickel, H., Hudson, F. P. and Woolf, L. I. (eds.)Phenylketonuria. George Thieme Verlag, Stuttgart, 1971, p. 163
Snyderman, S. E., Sansaricq, C., Chen, W. J., Norton, P. M. and Pansalkar, S. V. Argininemia.J. Pediatr. 90 (1977) 563
Snyderman, S. E., Sansaricq, C., Norton, P. M. and Goldstein, F. Argininemia treated from birth.J. Pediatr. 95 (1979) 61
Statter, M., Russel, A., Abzug-Horowitz, S. and Pinon, A. Abnormal orotic acid metabolism associated with acute hyperammonemia in the rat.Biochem. Med. 9 (1974) 1
Sunshine, P., Lindenbaum, J. E., Levy, H. L. and Freeman, J. M. Hyperammonemia due to a defect in hepatic ornithine transcarbamylase.Pediatrics 50 (1972) 100
Terheggen, H. G., Schwenk, A., Lowenthal, A., van Sande, M. and Colombo, J. P. Argininaemia with arginase deficiency.Lancet 2 (1969) 748
Terheggen, H. G., Lowenthal, A., Lavinha, F. and Colombo, J. P. Familial hyperargininaemia.Arch. Dis. Child. 50 (1975) 57
Author information
Authors and Affiliations
Rights and permissions
About this article
Cite this article
Naylor, E.W., Cederbaum, S.D. Urinary pyrimidine excretion in arginase deficiency. J Inherit Metab Dis 4, 207–210 (1981). https://doi.org/10.1007/BF02263653
Issue Date:
DOI: https://doi.org/10.1007/BF02263653