Hypoxanthine guanine phosphoribosyl transferase deficiency presenting with gout and renal failure in infancy.
- 1 October 1983
- journal article
- case report
- Published by BMJ in Archives of Disease in Childhood
- Vol. 58 (10) , 831-833
- https://doi.org/10.1136/adc.58.10.831
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.Keywords
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