Inosinic acid dehydrogenase activity in the Lesch-Nyhan syndrome.
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.
D000704:Analysis of Variance; D001264:Athetosis; D002247:Carbon Isotopes; D004912:Erythrocytes / Q000201:enzymology*; D006150:Guanine Nucleotides / Q000096:biosynthesis; D006801:Humans; D007292:Inosine Nucleotides; D008607:Intellectual Disability; D007926:Lesch-Nyhan Syndrome / Q000097:blood / Q000201:enzymology; D009711:Nucleotides / Q000096:biosynthesis; D010088:Oxidoreductases / Q000097:blood / Q000378:metabolism*; D011686:Purine-Pyrimidine Metabolism, Inborn Errors / Q000201:enzymology*; D012652:Self Mutilation; D014166:Transferases / Q000097:blood
D002247:Carbon Isotopes; D006150:Guanine Nucleotides; D007292:Inosine Nucleotides; D009711:Nucleotides; D010088:Oxidoreductases; D014166:Transferases