Update on the phenotypic spectrum of Lesch-Nyhan disease and its attenuated variants.

@article{Torres2012UpdateOT,
  title={Update on the phenotypic spectrum of Lesch-Nyhan disease and its attenuated variants.},
  author={Rosa J Torres and Juan Garc{\'i}a Puig and H. A. Jinnah},
  journal={Current rheumatology reports},
  year={2012},
  volume={14 2},
  pages={189-94}
}
Congenital deficiency of the enzyme hypoxanthine-guanine phosphoribosyltransferase (HPRT) results in a spectrum of clinical phenotypes. All of these phenotypes are associated with marked overproduction of uric acid and related problems such as hyperuricemia, urate nephrolithiasis, tophi, and gout. The mildest phenotypes include only problems related to overproduction of uric acid. The most severe phenotype is known as Lesch-Nyhan disease, in which the phenotype also includes severe motor… CONTINUE READING
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