Dietary-induced variation of hypoxanthine-guanine phosphoribosyl transferase activity in patients with the Lesch-Nyhan syndrome.
We have studied three patients with the Lesch-Nyhan syndrome to assess the effect of dietary purines on erythrocyte hypoxanthine-guanine phosphoribosyltransferase (HGPRT) activity. During dietary purine restriction HGPRT activity rose in all three patients; resumption of normal dietary purine intake or the addition of adenine (10 mg/kg per day) to a purinefree diet resulted in a fall in HGPRT activity. These changes in enzyme activity appeared to be due to an activation or inactivation of the mutant enzyme without a change in the half-life or absolute amount of HGPRT enzyme protein.
D000225:Adenine / Q000494:pharmacology; D002247:Carbon Isotopes; D004032:Diet; D004789:Enzyme Activation; D006147:Guanine; D006207:Half-Life; D006801:Humans; D007042:Hypoxanthines; D007926:Lesch-Nyhan Syndrome / Q000201:enzymology*; D010430:Pentosyltransferases / Q000378:metabolism*; D011687:Purines / Q000494:pharmacology
D002247:Carbon Isotopes; D007042:Hypoxanthines; D011687:Purines; D006147:Guanine; D010430:Pentosyltransferases; D000225:Adenine