Hypoxanthine-guanine phosphoribosyltransferase. Characterization of a mutant in a patient with gout.

The Journal of Clinical Investigation
I H FoxV Wyhofsky

Abstract

The mutation in a young gouty male with a partial deficiency of hypoxanthine-guanine phosphoribosyltransferase has been evaluated. The serum uric acid was 11.8 mg/100 ml, and the urinary uric acid excretion was 1,279 mg/24 h. Erythrocyte hypoxanthine-guanine phosphoribosyltransferase was 34.2 nmol/h/mg, adenine phosphoribosyltransferase was 36.5 nmol/h/mg and phosphoribosylpyrophosphate was 2.6 muM. Hypoxanthine-guanine phosphoribosyltransferase from peripheral leukocytes and cultured diploid skin fibroblasts was within the normal range, but enzyme activity in rectal mucosa was below the normal range. Initial velocity studies of the normal enzyme and the mutant enzyme from erythrocytes with the substrates hypoxanthine, guanine, or phosphoribosylpyrophosphate showed that the Michaelis constants were similar. Product inhibition studies distinguished the mutant enzyme from the normal enzyme. Hyperbolic kinetics with increasing phosphoribosylpyrophosphate were converted to sigmoid kinetics by 0.2 mM GMP with the mutant enzyme but not with the normal enzyme. The mutant erythrocyte hypoxanthine-guanine phosphoribosyltransferase was inactivated normally at 80 degrees C and had a normal half-life in the peripheral circulation. The mol ...Continue Reading

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Citations

Jan 1, 1988·Journal of Inherited Metabolic Disease·T Galloon, E H Harley
Oct 13, 1983·The New England Journal of Medicine·J M WilsonW N Kelley
Sep 15, 1978·European Journal of Biochemistry·M StraussM Goerl
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Oct 1, 1991·Biochemical Medicine and Metabolic Biology·P BoerO Sperling

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