LESCH-NYHAN SYNDROME- Introductory Remarks, Other names,, Statistics & Facts, Risk Factors, Causes, Types, Signs & Symptoms, Diagnostic Procedures & Tests, Treatment & Management, Differential Diagnosis, Complications, Prevention Strategies
Introductory Remarks LESCH-NYHAN SYNDROME is a rare inborn error of purine metabolism, first identified in 1964, is characterized by absence or deficiency of HGPRT enzyme activity. HGPRT refers to hypoxanthine-guanine phosphoribosyltransferase. This congenital disorder is passed down from mothers to their male offspring and rarely affects female children. Lesch-Nyhan syndrome is known to affect the … Read more