Purine metabolism and immunodeficiency: Urinary purine excretion as a diagnostic screening test in adenosine deaminase and purine nucleoside phosphorylase deficiency

H. A. Simmonds, A. Sahota, C. F. Potter, J. S. Cameron

Research output: Contribution to journalArticlepeer-review

35 Scopus citations

Abstract

The authors compared urinary purine excretion by two different methods in three separate paediatric disorders of purine metabolism: purine nucleoside phosphorylase deficiency, adenosine deaminase deficiency and adenine phosphoribosyltransferase deficiency. The abnormal purines identified in each case were specific for the defect and directly related to it: adenine in adenine phophoribosyltransferase deficiency; the abnormal nucleosides inosine, guanosine and their corresponding deoxyribosides in purine nucleoside phosphorylase deficiency; deoxyadenosine in adenosine deaminase deficiency, the latter having previously been identified erroneously as adenine after degradation in the acidic conditions used. Deoxyriboside excretion was specific for the two defects associated with immunodeficiency: adenine for adenine phosphoriboxyltransferase deficiency and 2,8-dihydroxyadenine urolithiasis. The results obtained by a quantitative method were reflected in a simple rapid qualitative technique, isotachophoresis of the urine. Purine overexcretion (principally inosine) was evident only in purine nucleoside phosphorylase deficiency, which emphasizes the importance of hypoxanthine salvage for the overall control of purine production in man. In none of these disorders was any inhibition of pyrimidine biosynthesis as reflected by oroticaciduria noted. Orotic acid excretion was within normal limits in all cases. From these results it is suggested that the associated immunodeficiency in adenosine deaminase deficiency and purine nucleoside phosphorylase deficiency relates directly to the intracellular accumulation of 2'-deoxyribosides and not indirectly to an inhibitory effect on pyrimidine metabolism.

Original languageEnglish (US)
Pages (from-to)579-584
Number of pages6
JournalClinical Science and Molecular Medicine
Volume54
Issue number5
DOIs
StatePublished - 1978
Externally publishedYes

All Science Journal Classification (ASJC) codes

  • Medicine(all)

Fingerprint

Dive into the research topics of 'Purine metabolism and immunodeficiency: Urinary purine excretion as a diagnostic screening test in adenosine deaminase and purine nucleoside phosphorylase deficiency'. Together they form a unique fingerprint.

Cite this