Hypoxanthine-guanine phosophoribosyltransferase (HPRT) deficiency: Lesch-Nyhan syndrome

@article{Torres2007HypoxanthineguanineP,
  title={Hypoxanthine-guanine phosophoribosyltransferase (HPRT) deficiency: Lesch-Nyhan syndrome},
  author={Rosa J Torres and Juan Garc{\'i}a Puig},
  journal={Orphanet Journal of Rare Diseases},
  year={2007},
  volume={2},
  pages={48 - 48}
}
Deficiency of hypoxanthine-guanine phosphoribosyltransferase (HPRT) activity is an inborn error of purine metabolism associated with uric acid overproduction and a continuum spectrum of neurological manifestations depending on the degree of the enzymatic deficiency. The prevalence is estimated at 1/380,000 live births in Canada, and 1/235,000 live births in Spain. Uric acid overproduction is present inall HPRT-deficient patients and is associated with lithiasis and gout. Neurological… CONTINUE READING

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The spectrum of Hypoxanthine-Guanine Phosphoribosyltransferase (HPRT) deficiency. Clinical experience based on 22 patients from 18 Spanish families

  • J García Puig, R Torres Jiménez, +4 authors P O'Neill
  • Medicine ( Balt )
  • 2001
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