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Inosine Formation from Hypoxanthine by Intact Erythrocytes and Fibroblasts of an Immunodeficient Child with Purine Nucleoside Phosphorylase Deficiency

  • L. D. Fairbanks
  • D. R. Webster
  • H. A. Simmonds
  • C. F. Potter
  • A. R. Watson
Part of the Advances in Experimental Medicine and Biology book series (AEMB, volume 165)

Abstract

Detailed studies of purine metabolism have been carried out over an 18 month period in a neonate with severe T-cell immunodeficiency(Watson et al, this symposium). A complete deficiency of the enzyme purine nucleoside Phosphorylase (PNP: EC 2.4.2.1) had been found in lysed erythrocytes and leucocytes in both the degradative and synthetic direction (hypoxanthine to inosine). This paper reports in vitro studies using intact erythrocytes and fibroblasts from this child in which the formation of inosine from (8-14C) hypoxanthine was a consistent finding on separate occasions.

Keywords

Purine Metabolism Purine Nucleoside Phosphorylase Lysed Erythrocyte Intact Erythrocyte Physiological Phosphate 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

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References

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    H. A. Simmonds, A. R. Watson, D. R. Webster, A. Sahota and D. Perrett. GTP depletion and other erythrocyte abnormalities in inherited PNP deficiency. Biochem.Pharmac. 31: 941 (1982).CrossRefGoogle Scholar
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    T. Page, B. Bakay, E. Nissinen, W. L. Nyhan. Hypoxanthine-guanine phosphoribosyltransferase variants: correlation of clinical phenotype with enzyme activity. J.Inner.Metab.Dis. 4: 203 (1982).CrossRefGoogle Scholar
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    A. Hershko, C. Hershko, and J. Mager. Increased formation of 5-phosphoribosyl-l-pyrophosphate in red cells of some gout patients. Israel J.Med.Sci. 4: 939 (1968).PubMedGoogle Scholar
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    T. S. Shenoy, A. J. Clifford. Adenine nucleotide metabolism in relation to purine enzyme in liver, erythrocytes, and cultured fibroblasts. Biochim.Biophys.Acta 411: 133 (1975).PubMedCrossRefGoogle Scholar

Copyright information

© Springer Science+Business Media New York 1984

Authors and Affiliations

  • L. D. Fairbanks
    • 1
  • D. R. Webster
    • 1
  • H. A. Simmonds
    • 1
  • C. F. Potter
    • 1
  • A. R. Watson
    • 1
  1. 1.Purine Laboratory, Guy’s HospitalRoyal Manchester Children’s HospitalUSA

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