Purine metabolism in adenosine deaminase deficiency

G. C. Mills, F. C. Schmalstieg, K. B. Trimmer, A. S. Goldman, R. M. Goldblum

Research output: Contribution to journalArticlepeer-review

124 Scopus citations


Purine and pyrimidine metabolites were measured in erythrocytes, plasma, and urine of a 5 month old infant with adenosine deaminase (adenosine aminohydrolase, EC deficiency. Adenosine and adenine were measured using newly devised ion exchange separation techniques and a sensitive fluorescence assay. Plasma adenosine levels were increased, whereas adenosine was normal in erythrocytes and not detectable in urine. Increased amounts of adenine were found in erythrocytes and urine as well as in the plasma. Erythrocyte adenosine 5' monophosphate and adenosine diphosphate concentrations were normal, but adenosine triphosphate content was greatly elevated. Because of the possibility of pyrimidine starvation, pyrimidine nucleotides (pyrimidine coenzymes) in erythrocytes and orotic acid in urine were measured. Pyrimidine nucleotide concentrations were normal, while orotic acid was not detected. These studies suggest that the immune deficiency associated with adenosine deaminase deficiency may be related to increased amounts of adenine, adenosine, or adenine nucleotides.

Original languageEnglish (US)
Pages (from-to)2867-2871
Number of pages5
JournalUnknown Journal
Issue number8
StatePublished - 1976
Externally publishedYes

ASJC Scopus subject areas

  • General


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