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. 1972 Jun;51(6):1398–1404. doi: 10.1172/JCI106935

Inosinic acid dehydrogenase activity in the Lesch-Nyhan syndrome

D Michael Pehlke 1,2, John A McDonald 1,2, Edward W Holmes 1,2, William N Kelley 1,2
PMCID: PMC292276  PMID: 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.

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Selected References

These references are in PubMed. This may not be the complete list of references from this article.

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