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 language | English |
|---|---|
| Pages (from-to) | 488-496 |
| Number of pages | 9 |
| Journal | The Journal of pediatrics |
| Volume | 72 |
| Issue number | 4 |
| State | Published - Apr 1 1968 |
| Externally published | Yes |
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ASJC Scopus subject areas
- Pediatrics, Perinatology, and Child Health
Cite this
Excessive production of uric acid in type I glycogen storage disease. / Kelley, W. N.; Rosenbloom, F. M.; Seegmiller, J. E.; Howell, R.
In: The Journal of pediatrics, Vol. 72, No. 4, 01.04.1968, p. 488-496.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - Excessive production of uric acid in type I glycogen storage disease
AU - Kelley, W. N.
AU - Rosenbloom, F. M.
AU - Seegmiller, J. E.
AU - Howell, R.
PY - 1968/4/1
Y1 - 1968/4/1
N2 - 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.
AB - 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.
UR - http://www.scopus.com/inward/record.url?scp=0014271455&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=0014271455&partnerID=8YFLogxK
M3 - Article
C2 - 5239290
AN - SCOPUS:0014271455
VL - 72
SP - 488
EP - 496
JO - Journal of Pediatrics
JF - Journal of Pediatrics
SN - 0022-3476
IS - 4
ER -