Biochemical Genetics

, Volume 16, Issue 11–12, pp 1187–1202 | Cite as

Molecular and tissue-specific heterogeneity in HPRT deficiency

  • M. P. Uitendaal
  • C. H. M. M. de Bruyn
  • T. L. Oei
  • P. Hösli


In several patients with different degrees of HPRT deficiencies, residual activities have been determined in both lysed and intact erythrocytes. No close correlation could be found between the degree of HPRT deficiency and the severity of the clinical expression. Unless HPRT activity in both intact and lysed erythrocytes was below detection level, the residual activity in intact red blood cells was higher than in lysates. Tissue-specific heterogeneity was illustrated with a patient suffering from X-linked gout. Lysates from erythrocytes, leukocytes, and cultured fibroblasts showed 1%, 8%, and 100% of normal HPRT activity, respectively. Characterization of the erythrocyte and fibroblast HPRT from this patient showed no kinetic abnormalities. However, there was a decreased heat stability. It is concluded that for a better understanding of the pathophysiology in HPRT deficiency studies on nucleated cells from the different tissues are needed.

Key words

HPRT deficiency molecular heterogeneity tissue-specific heterogeneity cultured fibroblasts ultramicrochemical enzyme characterization 


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Copyright information

© Plenum Publishing Corporation 1978

Authors and Affiliations

  • M. P. Uitendaal
    • 1
  • C. H. M. M. de Bruyn
    • 1
  • T. L. Oei
    • 1
  • P. Hösli
    • 2
  1. 1.Department of Human Genetics, Faculty of MedicineUniversity of NijmegenNijmegenThe Netherlands
  2. 2.Department of Molecular BiologyInstitut PasteurParis, 15France

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