Lesch-Nyhan Syndrome: Altered Kinetic Properties of Mutant Enzyme
作者： J. A. McDonald , W. N. Kelley
DOI: 10.1126/SCIENCE.171.3972.689
关键词:
摘要: Hypoxanthine-guanine phosphoribosyltransferase is virtually inactive in erythrocytes from patients with the classical Lesch-Nyhan syndrome. In one such patient, activity of this enzyme ranged 8 to 34 percent normal when assayed a very high concentration magnesium 5-phosphoribosyl-1-pyrophosphate. addition, mutant exhibited sigmoidal kinetics substrate as well an increased Michaelis constant for both guanine and hypoxanthine. These findings provide first evidence genetic heterogeneity within group
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