Journal of Inherited Metabolic Disease

, Volume 11, Issue 3, pp 229–238 | Cite as

Biochemical basis of hypoxanthine-guanine phosphoribosyltransferase deficiency in nine families

  • D. T. Keough
  • R. B. Gordon
  • J. de Jersey
  • B. T. Emmerson


The concentration of hypoxanthine-guanine phosphoribosyltransferase (HPRT) cross-reacting material (CRM) was determined in haemolysates and/or lymphoblast lysates from nine patients with complete or partial deficiency of HPRT activity. Two of the patients had the fully developed Lesch-Nyhan syndrome and although they had undetectable HPRT activity, small amounts of CRM were found. HPRT-specific mRNA was not detected in lymphoblast lysates from one of these patients, while lysates from the other had a much reduced concentration. Samples from three patients with <0.1% of normal HPRT activity but with minor or no neurological manifestations were also found to contain small amounts of CRM. The other four patients whose HPRT activities ranged from 3 to 10% of normal were found to have CRM concentrations which varied from 26 to 100% of normal. In one patient with a partial deficiency theKm for 5-phospho-α-d-ribosyl-1-pyrophosphate was five times normal.


Public Health Internal Medicine Metabolic Disease Neurological Manifestation Biochemical Basis 
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Copyright information

© SSIEM and MTP Press Limited 1988

Authors and Affiliations

  • D. T. Keough
    • 1
  • R. B. Gordon
    • 1
  • J. de Jersey
    • 2
  • B. T. Emmerson
    • 1
  1. 1.Department of MedicineUniversity of Queensland, Princess Alexandra HospitalWoolloongabba
  2. 2.Department of BiochemistryUniversity of QueenslandSt. LuciaAustralia

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