Document Detail

The recognition of Lesch-Nyhan syndrome as an inborn error of purine metabolism.
MedLine Citation:
PMID:  9211189     Owner:  NLM     Status:  MEDLINE    
Lesch-Nyhan syndrome was first described over thirty years ago. The original patient was a 4-year-old boy with neurological abnormalities as well as haematuria. Crystals in his urine were identified and confirmed to be uric acid. The massive excretion of this purine led to metabolic studies using isotopically labelled uric acid to study turnover rates. Clues to the site of the enzyme defect resulted from studies with the immunosuppressive agent azathioprine, which normally causes uric acid concentrations to fall in blood and urine but was without effect in a Lesch-Nyhan patient. A deficiency of hypoxanthine phosphoribosyltransferase (HPRT) activity explained this observation in Lesch-Nyhan patients. Subsequent studies have indicated that the degree of HPRT deficiency appears to determine the severity of the disease. Molecular studies have shown that most families carry a unique mutation. Attempts are being made to correlate the type and site of a specific mutation with a particular phenotype.
W L Nyhan
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Publication Detail:
Type:  Journal Article; Review    
Journal Detail:
Title:  Journal of inherited metabolic disease     Volume:  20     ISSN:  0141-8955     ISO Abbreviation:  J. Inherit. Metab. Dis.     Publication Date:  1997 Jun 
Date Detail:
Created Date:  1997-09-09     Completed Date:  1997-09-09     Revised Date:  2007-03-21    
Medline Journal Info:
Nlm Unique ID:  7910918     Medline TA:  J Inherit Metab Dis     Country:  NETHERLANDS    
Other Details:
Languages:  eng     Pagination:  171-8     Citation Subset:  IM    
Department of Pediatrics, University of California, San Diego, La Jolla 92093-0830, USA.
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MeSH Terms
Hypoxanthine Phosphoribosyltransferase / genetics,  metabolism
Lesch-Nyhan Syndrome / genetics*,  metabolism,  physiopathology
Purine-Pyrimidine Metabolism, Inborn Errors / genetics*,  metabolism,  physiopathology
Reg. No./Substance:
EC Phosphoribosyltransferase

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine

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