Hypoxanthine guanine phosphoribosyl transferase deficiency presenting with gout and renal failure in infancy.
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.
D058186:Acute Kidney Injury / Q000201:enzymology*; D006073:Gout / Q000201:enzymology*; D006801:Humans; D007041:Hypoxanthine Phosphoribosyltransferase / Q000097:blood / Q000172:deficiency*; D007231:Infant, Newborn; D007668:Kidney / Q000473:pathology; D008297:Male
D007041:Hypoxanthine Phosphoribosyltransferase