Journal of Inherited Metabolic Disease

, Volume 8, Issue 2, pp 79–79 | Cite as

A case of severe hypoxanthine-guanine phosphoribosyl transferase deficiency

  • T. Žanić
  • V. Gamulin
  • K. Lipovac
Case Report

Keywords

Public Health Internal Medicine Metabolic Disease Phosphoribosyl Phosphoribosyl Transferase 

References

  1. Bakay, B., Nissinen, E., Sweetman, L., Franke, U. and Nyhan, W. L. Utilization of purines by an HPRT variant in an intelligent, non-mutilative patient with features of the Lesch-Nyhan syndrome.Pediatr. Res. 13 (1979) 1365–1370PubMedGoogle Scholar
  2. Lesch, M. and Nyhan, W. L. A familial disorder of uric acid metabolism and central nervous system function.Am. J. Med. 36 (1964) 561–570PubMedGoogle Scholar
  3. Seegmiller, J. E., Rosenbloom, F. M. and Kelley, W. N. Enzyme deficit associated with a sex linked human neurological disorder and excessive purine synthesis.Science 155 (1967) 1682–1684PubMedGoogle Scholar

Copyright information

© SSIEM and MTP Press Limited 1985

Authors and Affiliations

  • T. Žanić
    • 1
  • V. Gamulin
    • 2
  • K. Lipovac
    • 1
  1. 1.Institute of Medical Biochemistry, Faculty of Pharmacy and BiochemistryUniversity of ZagrebZagrebYugoslavia
  2. 2.Institute “R. Boškovic”ZagrebYugoslavia

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