Abstract
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 Grant Bartlett of San Diego has found (unpublished work) a very poor uptake of intravenously administered adenine-14C in the brain of rabbits. This raises a possible reason for the failure of adenine to prevent the neurological dysfunction in this disease. A purine compound that is more readily taken up by brain tissue might, therefore, offer a more reasonable approach to treatment.
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Department of Medicine, University of Washington, Seattle, Wash. 98105 (USA)
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Schulman, J., Greene, M., Fujimoto, W. et al. Adenine Therapy for Lesch-Nyhan Syndrome. Pediatr Res 5, 77–82 (1971). https://doi.org/10.1203/00006450-197102000-00005
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DOI: https://doi.org/10.1203/00006450-197102000-00005
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The Lesch-Nyhan syndrome
Zeitschrift f�r Kinderheilkunde (1973)