title: [Metabolism of purine nucleotides and the production of uric acid].
abstract: The molecular and biochemical aspects of purine nucleotide biosynthesis through de novo and salvage pathways, the production of uric acid, and their regulation mechanisms are reviewed for further understanding of hyperuricemia and gout. The metabolic rate of purine nucleotide biosynthesis is chiefly determined by the regulation of the de novo pathway, especially amidophosphoribosyltransferase and PRPP synthetase, and the accumulation of uric acid results from the acceleration of de novo biosynthesis and catabolism of purine nucleotide or the decrease in urinary excretion of uric acid. Moreover, several enzyme mutations of purine nucleotide metabolism are also clinically important including gout with hyperactive HPRT and the deficiency of HPRT (Lesch-Nyhan syndrome), adenylosuccinate lyase, xanthine oxidase, APRT, PNP, or ADA (SCID) with gene therapy.
authors.affiliation: Otsuka Department of Clinical and Molecular Nutrition, School of Medicine, University of Tokushima.
authors.forename: T
authors.initials: T
authors.lastname: Yamaoka
authors.forename: M
authors.initials: M
authors.lastname: Itakura
mesh_terms: D000582:Amidophosphoribosyltransferase / Q000235:genetics / Q000378:metabolism; D006073:Gout / Q000209:etiology*; D006801:Humans; D011685:Purine Nucleotides / Q000378:metabolism*; D012268:Ribose-Phosphate Pyrophosphokinase / Q000235:genetics / Q000378:metabolism; D014527:Uric Acid / Q000097:blood / Q000378:metabolism*
chemical_list: D011685:Purine Nucleotides; D014527:Uric Acid; D000582:Amidophosphoribosyltransferase; D012268:Ribose-Phosphate Pyrophosphokinase