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Research Article| Volume 81, ISSUE 1, P43-52, January 1973

Increased activity of two enzymes of pyrimidine biosynthesis de novo in erythrocytes from patients with the Lesch-Nyhan syndrome

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      Abstract

      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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