JAMES B. WYNGAARDEN, M.D.
This content is PDF only. Please click on the PDF icon to access.
Elsewhere in this issue, Kelley and associates (1) have summarized present knowledge of one recently recognized subtype of primary gout, a variety attributable to a marked deficiency of activity of hypoxanthine-guanine phosphoribosyltransferase (PRT). This particular type of gout, which characteristically presents before age 30, is marked by hyperuricemia greater than 9 mg/100 ml, urinary uric acid excretion values above 1,000 mg/day, and in some subjects by neurological abnormalities, megaloblastic marrow changes, or both. The diagnosis is established by assay of PRT activity of erythrocytes.
A total absence of demonstrable activity of this enzyme has been associated with a pediatric syndrome
WYNGAARDEN JB. Phosphoribosyltransferase (PRT) and Adenine PRT (A-PRT) Deficiency States in Man—New Inborn Errors of Purine Metabolism. Ann Intern Med. 1969;70:229–230. doi: https://doi.org/10.7326/0003-4819-70-1-229
Download citation file:
Published: Ann Intern Med. 1969;70(1):229-230.
Results provided by:
Copyright © 2020 American College of Physicians. All Rights Reserved.
Print ISSN: 0003-4819 | Online ISSN: 1539-3704
Conditions of Use