Hypoxanthine-Guanine Phosphoribosyltransferase Deficiency: Altered Kinetic Properties of a Specific Mutant Form of the Enzyme
The Lesch-Nyhan syndrome is a rare, X-linked genetic disease due to a functional absence of the enzyme hypoxanthine-guanine phosphoribosyltransferase (HGPRT) (Seegmiller, Rosenbloom and Kelley, 1967). This enzyme catalyzes the transfer of the 5-phosphoribosyl moiety of 5-phosphoribosyl-l-pyrophosphate (PP-ribose-P) to the purine bases guanine and hypoxanthine to form the nucleotides inosinic acid and guanylic acid.
KeywordsMutant Enzyme Hill Plot Normal Enzyme HGPRT Activity Nyhan Syndrome
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