Neurotransmitter changes in the pathophysiology of Lesch-Nyhan syndrome

Abstract

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.