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Hypoxanthine guanine phosphoribosyl transferase deficiency presenting with gout and renal failure in infancy.
  1. P C Holland,
  2. M J Dillon,
  3. J Pincott,
  4. H A Simmonds,
  5. T M Barratt

    Abstract

    A month old infant had gout and renal failure caused by hypoxanthine guanine phosphoribosyl transferase (HGPRTase) deficiency. Investigations showed a high uric acid value, crystal nephropathy on ultrasound, and uric acid deposition on renal biopsy. The HGPRTase value was low in red cells and fibroblasts.

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