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 journalArticle

123 Citations (Scopus)

Abstract

Purine and pyrimidine metabolites were measured in erythrocytes, plasma, and urine of a 5 month old infant with adenosine deaminase (adenosine aminohydrolase, EC 3.5.4.4) 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
JournalProceedings of the National Academy of Sciences of the United States of America
Volume73
Issue number8
StatePublished - 1976
Externally publishedYes

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Erythrocytes
Adenosine
Adenine
Urine
Pyrimidine Nucleotides
Orotic Acid
Adenosine Deaminase
Adenine Nucleotides
Ion Exchange
Coenzymes
Starvation
Adenosine Triphosphate
Fluorescence
purine
Severe combined immunodeficiency due to adenosine deaminase deficiency
pyrimidine

ASJC Scopus subject areas

  • Genetics
  • General

Cite this

Mills, G. C., Schmalstieg, F. C., Trimmer, K. B., Goldman, A. S., & Goldblum, R. M. (1976). Purine metabolism in adenosine deaminase deficiency. Proceedings of the National Academy of Sciences of the United States of America, 73(8), 2867-2871.

Purine metabolism in adenosine deaminase deficiency. / Mills, G. C.; Schmalstieg, F. C.; Trimmer, K. B.; Goldman, A. S.; Goldblum, R. M.

In: Proceedings of the National Academy of Sciences of the United States of America, Vol. 73, No. 8, 1976, p. 2867-2871.

Research output: Contribution to journalArticle

Mills, GC, Schmalstieg, FC, Trimmer, KB, Goldman, AS & Goldblum, RM 1976, 'Purine metabolism in adenosine deaminase deficiency', Proceedings of the National Academy of Sciences of the United States of America, vol. 73, no. 8, pp. 2867-2871.
Mills GC, Schmalstieg FC, Trimmer KB, Goldman AS, Goldblum RM. Purine metabolism in adenosine deaminase deficiency. Proceedings of the National Academy of Sciences of the United States of America. 1976;73(8):2867-2871.
Mills, G. C. ; Schmalstieg, F. C. ; Trimmer, K. B. ; Goldman, A. S. ; Goldblum, R. M. / Purine metabolism in adenosine deaminase deficiency. In: Proceedings of the National Academy of Sciences of the United States of America. 1976 ; Vol. 73, No. 8. pp. 2867-2871.
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