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Problems of Diagnosis in an Adolescent with Hypoxanthine-Guanine Phosphoribosyltransferase Deficiency and Acute Renal Failure

  • J. S. Cameron
  • H. A. Simmonds
  • D. R. Webster
  • V. Wass
  • A. Sahota
Part of the Advances in Experimental Medicine and Biology book series (AEMB, volume 165)

Abstract

In hypoxanthine-guanine phosphoribosyltransferase (E.C 2.4.2.8, HGPRT) deficiency1,2 the clinical manifestations usually parallel the amount of residual enzyme. Thus, patients with the full Lesch-Nyhan syndrome, including mental retardation, athetosis, hypotonia and compulsive self-mutilation, show no detectable enzyme (<0.01 nmol/mg protein/h), whilst those presenting as adult gout usually show low but detectable levels of enzyme.1,2 However, patients with severe neurological defects and detectable levels of enzyme have been described,2 as well as at least twelve patients whose red cell lysates lacked enzyme (<0.1 nmol/mg protein/h) but who were neurologically intact.3–8 We describe a patient who presented initially with acute renal failure, without any neurological manifestations and later developed tophaceous gout. Erythrocyte lysates demonstrated almost undetectable levels of HGPRT activity.

Keywords

Acute Renal Failure Tophaceous Gout Urinary Uric Acid Intact Erythrocyte Plasma Urate 
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

© Plenum Press, New York 1984

Authors and Affiliations

  • J. S. Cameron
    • 1
  • H. A. Simmonds
    • 1
  • D. R. Webster
    • 1
  • V. Wass
    • 1
  • A. Sahota
    • 1
  1. 1.Renal Unit and Purine Laboratory Department of MedicineGuy’s HospitalLondonUK

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