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The Lesch-Nyhan syndrome

Metabolic studies during administration of adenine

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Abstract

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 nephrotoxic 2,8-dioxyadenine, which can cause renal damage.

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Demus, A., Kaiser, W. & Schaub, J. The Lesch-Nyhan syndrome. Z. Kinder-Heilk. 114, 119–130 (1973). https://doi.org/10.1007/BF00440499

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Key words

  • Lesch-Nyhan syndrome
  • Adenine therapy
  • Glycine
  • Excretion of purine bases in urine