Lesch-nyhan

Inheritance

 * X-Linked Recessive

Molecular Etiology

 * HGPRT - Hypoxanthine-Guanine Phosphoribosyltransferase Deficiency
 * Leads to Overproduction of Uric Acid

Neurological

 * neurological degeneration starting 3-4 months
 * Developmental Delay, motor
 * Choreoathetoid Movements
 * Severe Spasticity
 * Self-mutilation behavior
 * Intellectual Disability = IQ ~50
 * Seizures = 50%
 * decreased dopamine

Genitourinary

 * orange crystals in diaper (urate)
 * renal disease if untreated