Excessive production of uric acid in type I glycogen storage disease

W. N. Kelley, F. M. Rosenbloom, J. E. Seegmiller, R. Rodney Howell

Research output: Contribution to journalArticle

42 Scopus citations

Abstract

An increased de novo production of uric acid has been demonstrated in three hyperuricemic siblings with Type I glycogen storage disease. The hyperuricemia in Type I glycogen storage disease, therefore, appears to result from the previously demonstrated reduced renal clearance of uric acid as well as increased uric acid biosynthesis. Hyperuicemia regularly occurs in patients with Type I glycogen storage disease; gouty arthritis and gouty nephropathy frequently develop into the major clinical problems in these patients as they become adults. Hypoxanthine-guanine phosphoribosyltransferase activity, which is deficient in certain patients with overproduction of uric acid, was normal in the three patients studied.

Original languageEnglish (US)
Pages (from-to)488-496
Number of pages9
JournalThe Journal of Pediatrics
Volume72
Issue number4
DOIs
StatePublished - Apr 1968
Externally publishedYes

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health

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