Inosinic acid dehydrogenase activity in the Lesch-Nyhan syndrome.

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.

• Authors: D M Pehlke, J A McDonald, E W Holmes, W N Kelley
• Journal: The Journal of clinical investigation (J Clin Invest) Vol. 51 Issue 6 Pg. 1398-404 (Jun 1972) ISSN: 0021-9738 [Print] United States
• PMID: 5024037 (Publication Type: Journal Article)

Chemical References

• Carbon Isotopes
• Guanine Nucleotides
• Inosine Nucleotides
• Nucleotides
• Oxidoreductases
• Transferases

Topics

• Analysis of Variance
• Athetosis
• Carbon Isotopes
• Erythrocytes (enzymology)
• Guanine Nucleotides (biosynthesis)
• Humans
• Inosine Nucleotides
• Intellectual Disability
• Lesch-Nyhan Syndrome (blood, enzymology)
• Nucleotides (biosynthesis)
• Oxidoreductases (blood, metabolism)
• Purine-Pyrimidine Metabolism, Inborn Errors (enzymology)
• Self Mutilation
• Transferases (blood)