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Problems in Diagnosis and Treatment of Adenine and Hypoxanthine-Guanine Phosphoribosyltransferase Deficiency

  • M. J. Dillon
  • H. A. Simmonds
  • T. M. Barratt
  • L. D. Fairbanks
  • P. C. Holland
Part of the Advances in Experimental Medicine and Biology book series (AEMB, volume 165)

Abstract

Adenine (APRT) and hypoxanthine-guanine (HGPRT) phosphoribosyltransferase deficiency were originally identified in children.1,2 The spectrum of manifestations in both is broad with similarities, but also important differences. Both are asociated with urinary calculi and can cause severe renal damage.1,2 Severe neurological problems are also found in complete HGPRT deficiency 1 but have not been noted in APRT deficiency. We have investigated 2 children presenting in renal failure that emphasise the problems of diagnosis and treatment of these 2 deficiencies and the particular difficulties encountered in the presence of impaired renal function.

Keywords

Uric Acid Plasma Uric Acid Lesch Nyhan Syndrome Plasma Urate APRT Deficiency 
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

  1. 1.
    W. N. Kelley and J. B. Wyngaarden. The Lesch Nyhan Syndrome. In: “The Metabolic Basis of Inherited Disease” Ed. J. B. Stanbury, J. B. Wyngaarden, D. S. Fredrickson, P 1011. McGraw Hill, New York, 4th Edition, 1978Google Scholar
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    H. A. Simmonds, C. F. Potter, A. Sahota, J. S. Cameron, G. A. Rose, D. I. Williams, D. G. Arkell and K. J. Van Acker. Adenine Phosphoribosyltransferase Deficiency Presenting As “Uric Acid” Stones; Pitfalls Of Diagnosis. J. Roy Soc. Med. 71: 791 (1978)PubMedGoogle Scholar
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    T. Page, B. Bakay, E. Nissinen and W. Z. Nyhan. Hypoxanthineguanine Phosphoribosyltransferase Variants: Correlation of Clinical Phenotype With Enzyme, Activity. J. Inherited Metab. Dis. 4: 177 (1981).CrossRefGoogle Scholar
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    D. A. Farebrother, J. R. Pincott, H. A. Simmonds, D. J. Warren, M. J. Dillon and J. S. Cameron. Uric Acid Crystal-Induced Nephropathy: Evidence For A Specific Renal Lesion In A Gouty Family. J. Pathol. 135: 159 (1981)PubMedCrossRefGoogle Scholar
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Copyright information

© Plenum Press, New York 1984

Authors and Affiliations

  • M. J. Dillon
    • 1
    • 2
  • H. A. Simmonds
    • 1
    • 2
  • T. M. Barratt
    • 1
    • 2
  • L. D. Fairbanks
    • 1
    • 2
  • P. C. Holland
    • 1
    • 2
  1. 1.Renal UnitHospital for Sick ChildrenLondon WC1UK
  2. 2.Purine Laboratory, Department of MedicineGuy’s HospitalLondon SE1UK

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