It is an inborn error in purine metabolism resulting in deficiency of HGPRT enzyme, resulting in increased conversion of glycine to uric acid with excessive purine synthesis and hyperurecemia.
Lesch-Nyhan syndrome pathophysiology
Sheehan's syndrome pathophysiology
Tuberous sclerosis pathophysiology
Pott's disease pathophysiology
Bannayan-Riley-Ruvalcaba syndrome pathophysiology
Lesch-Nyhan syndrome epidemiology and demographics
Sezary syndrome pathophysiology
Fragile X syndrome pathophysiology