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The deficiency of hypoxanthine-guanine phosphoribosyltransferase (HGPRT) in patients with the Lesch-Nyhan syndrome is accompanied by an increased specific activity of adenine phosphoribosyltransferase (APRT) and inosinic acid dehydrogenase (IMP-DH) as well as an increased concentration of phosphoribosylpyrophosphate (PP-ribose-P) in erythrocytes. In the present study we describe a 2 to 10 fold increase in the activity of orotate phosphoribosyltransferase (OPRT) and orotidylic decarboyxlase (ODC) in erythrocytes from patients with this disease. In contrast to the findings with the APRT and IMP-DH enzymes, the increased activity of OPRT and ODC cannot be attributed to enzyme stabilization. The increased activity of these 2 enzymes does not appear to be a generalized phenomenon occurring in all cell types.
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Accepted: October 4, 1972
Received: May 8, 1972
☆Supported in part by United States Public Health Service Grants AM 14362 and AM 05620, Cerebral Palsy Grant No. R-247-71, and a grant (RR30) from the General Clinical Research Centers Program of the Division of Research Resources, National Institutes of Health.
© 1973 Published by Elsevier Inc.