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Title: Inosinic acid dehydrogenase activity in the Lesch-Nyhan syndrome. Author: Pehlke DM, McDonald JA, Holmes EW, Kelley WN. Journal: J Clin Invest; 1972 Jun; 51(6):1398-404. PubMed ID: 5024037. Abstract: Inosinic acid dehydrogenase was evaluated in normal subjects and in patients with the Lesch-Nyhan syndrome. A significant difference in activity was found between erythrocytes derived from normal controls (1.21+/-0.47 pmoles/hr per mg protein) and from 15 patients with the Lesch-Nyhan syndrome (6.72+/-6.23 pmoles/hr per mg protein). However, no difference in activity was demonstrable in muscle or leukocytes derived from normal and Lesch-Nyhan patients. The increased activity of inosinic acid dehydrogenase in erythrocytes from patients with the Lesch-Nyhan syndrome is due to stabilization of the enzyme in vivo as well as the absence of an inhibitor which is present in erythrocytes from normal subjects.[Abstract] [Full Text] [Related] [New Search]