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The Lesch-Nyhan syndrome

✍ Scribed by Demus, Annmarie ;Kaiser, W. ;Schaub, J.

Publisher
Springer-Verlag
Year
1973
Weight
622 KB
Volume
114
Category
Article
ISSN
0044-2917

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✦ Synopsis

Metabolic studies in a case of Lesch-Nyhan syndrome are presented. De novo synthesis of purine was shown to be inhibited upon adenine administration. The excretion of oxypurines is elevated, however, by an increased incorporation of the administered adenine into purine bases. A side effect of adenine administration is the production of the slightly soluble and highly nephrotoxie 2,8-dioxyadenine, which can cause renal damage.

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