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. 1977 Aug;60(2):491–494. doi: 10.1172/JCI108800

Orotic aciduria in two unrelated patients with inherited deficiencies of purine nucleoside phosphorylase.

A Cohen, G E Staal, A J Ammann, D W Martin Jr
PMCID: PMC372392  PMID: 406278

Abstract

The urines of two unrelated children with inherited deficiencies of purine nucleoside phosphorylase have been found to contain significant quantities of orotic acid in addition to the previously reported purine nucleosides. The data are consistent with some cell types of these immunodeficient patients being deplete of pyrophosphoribosylphosphate, a precursor of both purine, and pyrimidine nucleosides. It is suggested that the pyrophosphoribosyl-phosphate-depleted cells may be some component of the thymus-dependent immune system.

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Selected References

These references are in PubMed. This may not be the complete list of references from this article.

  1. Becroft D. M., Phillips L. I., Simmonds A. Hereditary orotic aciduria: long-term therapy with uridine and a trial of uracil. J Pediatr. 1969 Nov;75(5):885–891. doi: 10.1016/s0022-3476(69)80318-5. [DOI] [PubMed] [Google Scholar]
  2. Cohen A., Doyle D., Martin D. W., Jr, Ammann A. J. Abnormal purine metabolism and purine overproduction in a patient deficient in purine nucleoside phosphorylase. N Engl J Med. 1976 Dec 23;295(26):1449–1454. doi: 10.1056/NEJM197612232952603. [DOI] [PubMed] [Google Scholar]
  3. Giblett E. R., Ammann A. J., Wara D. W., Sandman R., Diamond L. K. Nucleoside-phosphorylase deficiency in a child with severely defective T-cell immunity and normal B-cell immunity. Lancet. 1975 May 3;1(7914):1010–1013. doi: 10.1016/s0140-6736(75)91950-9. [DOI] [PubMed] [Google Scholar]
  4. Green C. D., Martin D. W., Jr Characterization of a feedback-resistant phosphoribosylpyrophosphate synthetase from cultured, mutagenized hepatoma cells that overproduce purines. Proc Natl Acad Sci U S A. 1973 Dec;70(12):3698–3702. doi: 10.1073/pnas.70.12.3698. [DOI] [PMC free article] [PubMed] [Google Scholar]
  5. Green H., Chan T. Pyrimidine starvation induced by adenosine in fibroblasts and lymphoid cells: role of adenosine deaminase. Science. 1973 Nov 23;182(4114):836–837. doi: 10.1126/science.182.4114.836. [DOI] [PubMed] [Google Scholar]
  6. Ishii K., Green H. Lethality of adenosine for cultured mammalian cells by interference with pyrimidine biosynthesis. J Cell Sci. 1973 Sep;13(2):429–439. doi: 10.1242/jcs.13.2.429. [DOI] [PubMed] [Google Scholar]
  7. Levin B., Abraham J. M., Oberholzer V. G., Burgess E. A. Hyperammonaemia: a deficiency of liver ornithine transcarbamylase. Occurrence in mother and child. Arch Dis Child. 1969 Apr;44(234):152–161. doi: 10.1136/adc.44.234.152. [DOI] [PMC free article] [PubMed] [Google Scholar]
  8. Mills G. C., Schmalstieg F. C., Trimmer K. B., Goldman A. S., Goldblum R. M. Purine metabolism in adenosine deaminase deficiency. Proc Natl Acad Sci U S A. 1976 Aug;73(8):2867–2871. doi: 10.1073/pnas.73.8.2867. [DOI] [PMC free article] [PubMed] [Google Scholar]
  9. Snyder F. F., Seegmiller J. E. The adenosine-like effect of exogenous cyclic AMP upon nucleotide and PP-ribose-P concentrations of cultured human lymphoblasts. FEBS Lett. 1976 Jul 1;66(1):102–106. doi: 10.1016/0014-5793(76)80595-9. [DOI] [PubMed] [Google Scholar]
  10. Ullman B., Cohen A., Martin D. W. Characterization of a cell culture model for the study of adenosine deaminase- and purine nucleoside phosphorylase-deficient immunologic disease. Cell. 1976 Oct;9(2):205–211. doi: 10.1016/0092-8674(76)90111-2. [DOI] [PubMed] [Google Scholar]
  11. Wada Y., Nishimura Y., Tanabu M., Yoshimura Y., Iinuma K. Hypouricemic, mentally retarded infant with a defect of 5-phosphoribosyl-1-pyrophosphate synthetase of erythrocytes. Tohoku J Exp Med. 1974 Jun;113(2):149–157. doi: 10.1620/tjem.113.149. [DOI] [PubMed] [Google Scholar]
  12. Wolberg G., Zimmerman T. P., Hiemstra K., Winston M., Chu L. C. Adenosine inhibition of lymphocyte-mediated cytolysis: possible role of cyclic adenosine monophosphate. Science. 1975 Mar 14;187(4180):957–959. doi: 10.1126/science.167434. [DOI] [PubMed] [Google Scholar]
  13. van Heukelom L. H., Staal G. E., Stoop J. W., Zegers B. J. An abnormal form of purine nucleoside phosphorylase in a family with a child with severe defective T-cell-and normal B-cell immunity. Clin Chim Acta. 1976 Oct 1;72(1):117–124. doi: 10.1016/0009-8981(76)90042-5. [DOI] [PMC free article] [PubMed] [Google Scholar]

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