Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Pivot Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Target Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Query: UNIPROT:P00492 (
hypoxanthine-guanine phosphoribosyltransferase
)
2,385
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
Disorders of purine and pyrimidine metabolism
can result in an array of clinical manifestations including neurologic manifestations. The most commonly cited disorder, in the neurologic realm, is
Lesch-Nyhan syndrome
which presumably reflects its distinctive feature of self-mutilation. Expansion of our knowledge with molecular genetic methodology has helped to better identify and characterize mutations such as those which occur with the enzyme hypoxanthine guanine phosphoribosyltransferase (HPRT), and this has enhanced our understanding of phenotypical expression of
Lesch-Nyhan syndrome
and Lesch-Nyhan variants. It is hoped that further elucidation of DNA coding regions and messenger RNA expression will lead to the potential for gene therapy to correct these inborn errors of purine and pyrimidine metabolism.
...
PMID:Disorders of purines and pyrimidines. 2436 55
