Lesch-Nyhan syndrome: A case report
Year: 2008
Type: article
Study design: Case Report
Abstract: 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.
Authors: A Kale, K Shah, S Hallikerimath
Institution: KLE Academy of Higher Education and Research
Language: English
Subfield: Molecular Biology
Domain: Life Sciences
Open Access status: diamond
OpenAlex ID: W1486971152