Excessive production of uric acid in type I glycogen storage disease

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

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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
Pages (from-to)488-496
Number of pages9
JournalThe Journal of pediatrics
Issue number4
StatePublished - Apr 1 1968
Externally publishedYes


ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health

Cite this

Kelley, W. N., Rosenbloom, F. M., Seegmiller, J. E., & Howell, R. (1968). Excessive production of uric acid in type I glycogen storage disease. The Journal of pediatrics, 72(4), 488-496.