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: EC:2.4.2.8 (
hypoxanthine-guanine phosphoribosyltransferase
)
2,527
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
Lesch-Nyhan syndrome is a rare anomaly consisting of a deficiency in the production of
hypoxanthine phosphoribosyltransferase
that leads to the overproduction of purine and the accumulation of uric acid. Major manifestations include mental retardation and
self-destructive behavior
resulting in self-mutilation through biting and scratching. Because no medical treatment exists to alleviate the symptoms of self-mutilation, direct dental intervention is the only way these behaviors can be affected. A unique case of this type involving two male identical twins is reported.
...
PMID:Lesch-Nyhan syndrome. A case report. 797 May 91
Lesch-Nyhan syndrome, a rare inborn error of metabolism, is characterized by mental retardation and
self-destructive behavior
resulting in self-mutilation through biting and scratching. It is a rare anomaly consisting of deficiency in the production of
hypoxanthine phosphoribosyltransferase
that leads to the overproduction of purine and accumulation of uric acid. No medical treatment exists to alleviate the symptoms of self-mutilation where direct dental intervention is the only way these behavior can be affected. A unique case of this type affecting a 6-year-old male child is reported.
...
PMID:Lesch-Nyhan syndrome: a case report. 1897 38
