JAMES B. WYNGAARDEN, M.D.
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
JAMES B. WYNGAARDEN. 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: 10.7326/0003-4819-70-1-229
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Published: Ann Intern Med. 1969;70(1):229-230.
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