Urate kinetics in hypoxanthine-guanine phosphoribosyltransferase deficiency: Their significance for the understanding of gout

Emmerson B.T., Gordon R.B. and Johnson L.A. (1976) Urate kinetics in hypoxanthine-guanine phosphoribosyltransferase deficiency: Their significance for the understanding of gout. QJM, 45 1: 49-61. doi:10.1093/oxfordjournals.qjmed.a067454


Author Emmerson B.T.
Gordon R.B.
Johnson L.A.
Title Urate kinetics in hypoxanthine-guanine phosphoribosyltransferase deficiency: Their significance for the understanding of gout
Journal name QJM   Check publisher's open access policy
ISSN 1460-2393
Publication date 1976
Sub-type Article (original research)
DOI 10.1093/oxfordjournals.qjmed.a067454
Volume 45
Issue 1
Start page 49
End page 61
Total pages 13
Subject 2700 Medicine
Abstract Urate production (miscible urate pool and turnover, daily production, glycine incorporation into urate) and urate excretion (24 hour urinary urate excretion on a purine free diet, renal clearances of urate and creatinine, per cent renal excretion of labelled urate, extra-renal elimination of urate) were measured in members of five families who demonstrated varying degrees of deficiency of the X-linked condition hypoxanthine-guanine phosphoribosyltransferase (HGPRT) deficiency. The hemizygous males, all of whom eventually developed symptoms, showed consistent overproduction of urate with a renal excretion of urate that varied from moderately to considerably increased. The nine heterozygotes, of whom seven were asymptomatic, also showed abnormalities of urate production, although all but two had normal serum urate concentrations. The one heterozygote who had developed gouty arthritis had the lowest renal excretory capacity for urate, whereas the one heterozygote who had developed an episode of renal colic had the highest urate clearance. In the heterozygotes with normal serum urate concentrations, the increased urate production was balanced by the renal excretion of urate. This demonstrates the importance of the relation between urate production and urate excretion in determining the clinical expression of abnormal urate metabolism.
Q-Index Code C1
Q-Index Status Provisional Code
Institutional Status Unknown

Document type: Journal Article
Sub-type: Article (original research)
Collection: Scopus Import
 
Versions
Version Filter Type
Citation counts: Scopus Citation Count Cited 9 times in Scopus Article | Citations
Google Scholar Search Google Scholar
Created: Tue, 28 Jun 2016, 03:59:11 EST by System User