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Update on the Phenotypic Spectrum of Lesch-Nyhan Disease and its Attenuated Variants

  • CRYSTAL ARTHRITIS (MH PILLINGER, SECTION EDITOR)
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Abstract

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 handicap, intellectual disability, and self-injurious behavior. In between these two extremes is a continuous spectrum of phenotypes with varying degrees of motor and cognitive handicap but no self-injurious behavior. The pathogenesis of overproduction of uric acid in HPRT deficiency is well-understood, and treatments are available to control it. The pathogenesis of the neurobehavioral problems is less well-understood, and effective treatments for them are lacking.

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Papers of particular interest, published recently, have been highlighted as: • Of importance •• Of major importance

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Acknowledgments

Dr. Jinnah has received grant support from and had travel/accommodations expenses covered/reimbursed by the National Institutes of Health and the Lesch-Nyhan Syndrome Children’s Research Foundation.

Disclosure

Dr. Jinnah has received grant support from Psyadon Pharmaceuticals.

Drs. Torres and Puig reported no potential conflicts of interest relevant to this article.

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Authors and Affiliations

  1. Division of Clinical Biochemistry and Genetic Institute, Hospital Universitario La Paz, Universidad Autonoma de Madrid, Madrid, Spain

    Rosa J. Torres

  2. Division of Internal Medicine, Hospital Universitario La Paz, IdiPaz, Madrid, Spain

    Juan G. Puig

  3. Departments of Neurology, Human Genetics, and Pediatrics, Emory University School of Medicine, 101 Woodruff Circle, Atlanta, GA, 30322, USA

    H. A. Jinnah

Authors
  1. Rosa J. Torres
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  2. Juan G. Puig
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  3. H. A. Jinnah
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Correspondence to H. A. Jinnah.

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Torres, R.J., Puig, J.G. & Jinnah, H.A. Update on the Phenotypic Spectrum of Lesch-Nyhan Disease and its Attenuated Variants. Curr Rheumatol Rep 14, 189–194 (2012). https://doi.org/10.1007/s11926-011-0231-5

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  • DOI: https://doi.org/10.1007/s11926-011-0231-5

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