Adenine Phosphoribosyltransferase Deficiency in a Female with Gout

Abstract

A moderate deficiency of adenine phosphoribosyltransferase (APRTase) has been described in two families (1,2). In the first of these families the deficiency of APRTase extended to four members in three generations. However in these cases, there was no evidence of abnormal urate metabolism. The second report of a moderate APRTase deficiency involved a patient with a long history of gouty arthritis. In this patient, the incorporation of ¹⁴c-glycine into urinary uric acid and the urinary excretion of uric acid were normal, and the authors concluded that the moderate deficiency of APRTase was not associated with a derangement of de novo purine synthesis. A functionally similar enzyme, hypoxanthine-guanine phosphoribosyltransferase (HGPRTase), also involved in purine metabolism, has been reported to be only partially active in cases of gout in which the subjects produce excessive quantities of uric acid (3).