Hypoxanthine-Guanine Phosphoribosyltransferase Deficiency in Gout
Authors: WILLIAM N. KELLEY
Journal: Annals of Internal Medicine (1969)

Review1 January 1969Hypoxanthine-Guanine Phosphoribosyltransferase Deficiency in GoutWILLIAM N. KELLEY, M.D., MARTIN L. GREENE, M.D., FREDERICK M. ROSENBLOOM, M.D., J. FRANK HENDERSON, PH.D., J. E. SEEGMILLER, M.D.WILLIAM N. KELLEY, M.D., MARTIN L. GREENE, M.D., FREDERICK M. ROSENBLOOM, M.D., J. FRANK HENDERSON, PH.D., J. E. SEEGMILLER, M.D.Author, Article, and Disclosure Informationhttps://doi.org/10.7326/0003-4819-70-1-155 SectionsAboutPDF ToolsAdd to favoritesDownload CitationsTrack CitationsPermissions ShareFacebookTwitterLinkedInRedditEmail ExcerptINTRODUCTIONSophisticated biochemical studies in recent years have revealed that the regulation of intracellular metabolism is a logical, orderly, and intricate process. Control of enzyme activity, as well as the rate of enzyme synthesis and catabolism, provide regulatory mechanisms important to the economy of the cell. It has become apparent that some human disorders may indeed result from genetically determined alterations of these normal control mechanisms (1, 2).A substantial proportion of gouty patients have a metabolic defect characterized by the synthesis of abnormally large quantities of uric acid that in turn is the result of an excessive rate of...References1. PARKERBEARN WCAG: Application of genetic regulatory mechanisms to human genetics. Amer. J. Med. 34: 680, 1963. CrossrefMedlineGoogle Scholar2. STANBURYWYNGAARDENFREDRICKSON JBJBDS: Inherited variation and metabolic abnormality, in The Metabolic Basis of Inherited Disease, 2nd ed., edited by STANBURY, J. B., WYNGAARDEN, J. B., FREDRICKSON, D. S., McGraw-Hill Book Co., Inc., 1966, p. 3. Google Scholar3. BENEDICTROCHEYuBIENGUTMANSTETTEN JDMTFEMABD: Incorporation of glycine nitrogen into uric acid in normal and gouty man. Metabolism 1: 3, 1952. MedlineGoogle Scholar4. 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