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Case Reports
. 1983 Oct;58(10):831-3.
doi: 10.1136/adc.58.10.831.

Hypoxanthine guanine phosphoribosyl transferase deficiency presenting with gout and renal failure in infancy

P C Holland, M J Dillon, J Pincott, H A Simmonds, T M Barratt
Case Reports

Hypoxanthine guanine phosphoribosyl transferase deficiency presenting with gout and renal failure in infancy

P C Holland et al. Arch Dis Child. 1983 Oct.

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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