Neurotransmitter changes in the pathophysiology of Lesch–Nyhan syndrome

The neurological symptoms of Lesch–Nyhan syndrome (LNS) are assumed to result from the neurotransmitter changes in this disorder. Among them, the dopaminergic system is believed to play a role in the self-injurious behavior through receptor supersensitivity. However, the precise mechanism underlying the dopamine supersensitivity remains unclear. An increased serotonergic action in the striatum may be crucial for the appearance of self-injurious behavior, and pharmacological evidence suggests the efficacy of serotonin agonists/antagonists for the treatment of the self-mutilation in LNS.