Document Detail


Severe gouty arthritis and mild neurologic symptoms due to F199C, a newly identified variant of the hypoxanthine guanine phosphoribosyltransferase.
MedLine Citation:
PMID:  19565499     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
A deficiency in hypoxanthine guanine phosphoribosyltransferase (HPRT) activity leads to overproduction of uric acid. According to the degree of enzymatic deficiency, a large spectrum of neurologic features can also be observed, ranging from mild or no neurologic involvement to complete Lesch-Nyhan disease. Herein, we describe a patient with hyperuricemia, juvenile-onset gouty arthritis, nephrolithiasis, and mild neurologic symptoms, attributed to a newly identified variant of the hprt gene, c.596T>G, resulting in the amino acid change p.F199C. Residual HPRT activity (8%) protected against severe neurologic involvement in this patient. Modeling of the mutated protein was used to predict the mechanisms that led to partial enzymatic activity. Careful neurologic examination is warranted in juvenile and middle-aged patients with gout, in order to detect mild symptoms that may lead to a diagnosis of HPRT deficiency.
Authors:
Hang-Korng Ea; Thomas Bardin; H A Jinnah; Bernard Aral; Frédéric Lioté; Irène Ceballos-Picot
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Publication Detail:
Type:  Case Reports; Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  Arthritis and rheumatism     Volume:  60     ISSN:  0004-3591     ISO Abbreviation:  Arthritis Rheum.     Publication Date:  2009 Jul 
Date Detail:
Created Date:  2009-07-14     Completed Date:  2009-09-14     Revised Date:  2014-09-17    
Medline Journal Info:
Nlm Unique ID:  0370605     Medline TA:  Arthritis Rheum     Country:  United States    
Other Details:
Languages:  eng     Pagination:  2201-4     Citation Subset:  AIM; IM    
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MeSH Terms
Descriptor/Qualifier:
Adult
Arthritis, Gouty / diagnosis,  genetics*
Genetic Predisposition to Disease / genetics
Genetic Variation / genetics
Humans
Hypoxanthine Phosphoribosyltransferase / deficiency,  genetics*
Lesch-Nyhan Syndrome / genetics*
Male
Mutation / genetics
Nephrolithiasis / diagnosis,  genetics*
Nervous System Diseases / diagnosis,  genetics*
Grant Support
ID/Acronym/Agency:
DK-082840/DK/NIDDK NIH HHS; HD-053312/HD/NICHD NIH HHS; R01 HD053312/HD/NICHD NIH HHS; R01 HD053312-02/HD/NICHD NIH HHS
Chemical
Reg. No./Substance:
EC 2.4.2.8/Hypoxanthine Phosphoribosyltransferase
Comments/Corrections

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