Document Detail

Update on the phenotypic spectrum of Lesch-Nyhan disease and its attenuated variants.
MedLine Citation:
PMID:  22198833     Owner:  NLM     Status:  MEDLINE    
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.
Rosa J Torres; Juan G Puig; H A Jinnah
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Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't; Review    
Journal Detail:
Title:  Current rheumatology reports     Volume:  14     ISSN:  1534-6307     ISO Abbreviation:  Curr Rheumatol Rep     Publication Date:  2012 Apr 
Date Detail:
Created Date:  2012-03-09     Completed Date:  2012-07-23     Revised Date:  2014-09-17    
Medline Journal Info:
Nlm Unique ID:  100888970     Medline TA:  Curr Rheumatol Rep     Country:  United States    
Other Details:
Languages:  eng     Pagination:  189-94     Citation Subset:  IM    
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MeSH Terms
Gout / genetics*
Hyperuricemia / genetics*
Hypoxanthine Phosphoribosyltransferase / genetics*
Lesch-Nyhan Syndrome / diagnosis*,  genetics
Self-Injurious Behavior / genetics*
Grant Support
Reg. No./Substance:
EC Phosphoribosyltransferase

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