The Significance of the Deficiency State in Lesch‐nyhan Disease

Inosinic acid dehydrogenase activity in the Lesch-Nyhan syndrome

“…Inosinic acid dehydrogenase catalyzes the first of two sequential steps leading to the synthesis of GMP (Fig. 4) neurological and behavioral abnormalities in the LeschNyhan syndrome (20). Our finding that levels of inosinic acid dehydrogenase activity in nucleated cells such as leukocytes and muscle do not appear to be significantly elevated in the Lesch-Nyhan syndrome suggests that the elevated activity may be limited to the erythrocyte.…”

Dietary-Induced Variation of Hypoxanthine-Guanine Phosphoribosyl Transferase Activity in Patients with the Lesch-Nyhan Syndrome

“…After the initial description of the enzyme defect, several investigators noted low levels of HGPRT activity in hemolysate from patients with this syndrome (2,3) while most found HGPRT activity undetectable (4)(5)(6). More recently we have noted a wide range of HGPRT activity over time in the same patient suggesting that environmental factors might partly account for this discrepancy.…”

Hypoxanthine-guanine phosphoribosyltransferase: characteristics of the mutant enzyme in erythrocytes from patients with the Lesch-Nyhan syndrome

“…Since that time, many cases have been reported and in most studies essentially no hypoxanthine-guanine phosphoribosyltransferase activity has been found in erythrocyte lysates (10)(11)(12)(13). This virtually complete absence of hypoxanthine-guanine phosphoribosyltransferase in patients with the Lesch-Nyhan syndrome has distinguished them from a group of subjects with a partial deficiency of hypoxanthine-guanine phosphoribosyltransferase (0.03 to 30% of normal) who have gout and hyperuricemia but are without serious neurologic disease (5,14).…”