Disease Modeling of Lesch-Nyhan Disease Using Induced Pluripotent Stem Cells.

Lesch-Nyhan Disease (LND) is an X-linked metabolic disorder with characteristic abnormalities that include dystonia, intellectual disability, and self-injurious behaviors. LND is caused by mutations in the HPRT1 gene, which encodes the purine salvage enzyme, hypoxanthine-guanine phosphoribosyltransferase (HGprt). The mechanisms responsible for neurological and behavioral abnormalities are unclear. Because there are no signs of degeneration in the LND brain, the neurobehavioral syndrome is thought to be due to neural dysfunction.