Adenine Therapy for Lesch-Nyhan Syndrome

@article{Schulman1971AdenineTF,
  title={Adenine Therapy for Lesch-Nyhan Syndrome},
  author={Joseph D. Schulman and Martin L Greene and Wilfred Y. Fujimoto and J. Edwin Seegmiller},
  journal={Pediatric Research},
  year={1971},
  volume={5},
  pages={77-82}
}
Extract: A child with the Lcsch-Nyhan syndrome was identified at birth by demonstrating a gross deficiency of the enzyme hypoxanthine-guanine phosphoribosyltransferase (HPRT) in cord blood. Therapy with adenine, begun during the 1st month of life, failed to prevent the development of the severe neurological damage characteristic of this disease.Speculation: Since this work was completed, Dr. Grant Bartlett of San Diego has found (unpublished work) a very poor uptake of intravenously… CONTINUE READING
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Substrate stabilization : Mechanism for elevated adenine phosphoribosyllransfera . se activity in erythrocytes lacking hypoxanthineguanine phosplioribo . syltransfera

  • M. I.. GREENE, J. A. BOYLE, J. E. AND SF. EGMILI. ER
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Possible functions of hypoxanthincguaninc pho . sphoribosyltransfcra . se and their relation to the biochemical pathology of the I . eschN ' vhan syndrome

  • M. L. GKFENE, J. F. Ill NDFRSON
  • 1968

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