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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
Article

Summary

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.

Keywords

Public Health Internal Medicine Metabolic Disease Neurological Manifestation Biochemical Basis 
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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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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