Abstract
A simple method is described for diagnosing adenosine deaminase and purine nucleoside phosphorylase deficiency using urine. Cellulose thin layer chromatography of 1 microliter of urine from affected children was performed and deoxyadenosine and deoxyguanosine were easily detected by phosphorescence at the temperature of liquid nitrogen. This test is not expensive and can be done in any laboratory. It should be suitable for diagnostic screening in patients with immune deficiency.
Full text
PDF
Images in this article
Selected References
These references are in PubMed. This may not be the complete list of references from this article.
- 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]
- Donofrio J., Coleman M. S., Hutton J. J., Daoud A., Lampkin B., Dyminski J. Overproduction of adenine deoxynucleosides and deoxynucletides in adenosine deaminase deficiency with severe combined immunodeficiency disease. J Clin Invest. 1978 Oct;62(4):884–887. doi: 10.1172/JCI109201. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Edwards Y. H., Hopkinson D. A., Harris H. Inherited variants of human nucleoside phosphorylase. Ann Hum Genet. 1971 May;34(4):395–408. doi: 10.1111/j.1469-1809.1971.tb00252.x. [DOI] [PubMed] [Google Scholar]
- 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]
- Giblett E. R., Anderson J. E., Cohen F., Pollara B., Meuwissen H. J. Adenosine-deaminase deficiency in two patients with severely impaired cellular immunity. Lancet. 1972 Nov 18;2(7786):1067–1069. doi: 10.1016/s0140-6736(72)92345-8. [DOI] [PubMed] [Google Scholar]
- Hopkinson D. A., Cook P. J., Harris H. Further data on the adenosine deaminase (ADA) polymprphism and a report of a new phenotype. Ann Hum Genet. 1969 May;32(4):361–367. doi: 10.1111/j.1469-1809.1969.tb00087.x. [DOI] [PubMed] [Google Scholar]
- Maddocks J. L., Davidson G. S. Separation and detection of picomole quantities of azathioprine metabolites. Br J Clin Pharmacol. 1975 Aug;2(4):359–360. doi: 10.1111/j.1365-2125.1975.tb02785.x. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Mills G. C., Goldblum R. M., Newkirk K. E., Schmalstieg F. C. Urinary excretion of purines, purine nucleosides, and pseudouridine in adenosine deaminase deficiency. Biochem Med. 1978 Oct;20(2):180–199. doi: 10.1016/0006-2944(78)90065-0. [DOI] [PubMed] [Google Scholar]
- Simmonds H. A., Sahota A., Potter C. F., Cameron J. S. Purine metabolism and immunodeficiency: urinary purine excretion as a diagnostic screening test in adenosine deaminase and purine nucleoside phosphorylase deficiency. Clin Sci Mol Med. 1978 May;54(5):579–584. doi: 10.1042/cs0540579. [DOI] [PubMed] [Google Scholar]
- Steele R. H., Szent-Györgyi A. ON EXCITATION OF BIOLOGICAL SUBSTANCES. Proc Natl Acad Sci U S A. 1957 Jun 15;43(6):477–491. doi: 10.1073/pnas.43.6.477. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Stoop J. W., Zegers B. J., Hendrickx G. F., van Heukelom L. H., Staal G. E., de Bree P. K., Wadman S. K., Ballieux R. E. Purine nucleoside phosphorylase deficiency associated with selective cellular immunodeficiency. N Engl J Med. 1977 Mar 24;296(12):651–655. doi: 10.1056/NEJM197703242961203. [DOI] [PubMed] [Google Scholar]