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Current Rheumatology Reports

Erschienen in:

01.04.2012 | CRYSTAL ARTHRITIS (MH PILLINGER, SECTION EDITOR)

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

verfasst von: Rosa J. Torres, Juan G. Puig, H. A. Jinnah

Erschienen in: Current Rheumatology Reports | Ausgabe 2/2012

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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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Titel: Update on the Phenotypic Spectrum of Lesch-Nyhan Disease and its Attenuated Variants
verfasst von: Rosa J. Torres
Juan G. Puig
H. A. Jinnah
Publikationsdatum: 01.04.2012
Verlag: Current Science Inc.
Erschienen in: Current Rheumatology Reports / Ausgabe 2/2012
Print ISSN: 1523-3774
Elektronische ISSN: 1534-6307
DOI: https://doi.org/10.1007/s11926-011-0231-5

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