Lesch-Nyhan disease

Because there are currently no established effective therapies available for the neurobehavioral features of Lesch-Nyhan disease (LND), primary prevention is the most important medical intervention. This includes genetic counseling for families with a history of LND and determining the carrier status of women in these families. Female carriers should have all subsequent pregnancies monitored with preimplantation, or prenatal diagnosis if the family would consider termination in the case of an affected pregnancy. Appropriate guidance regarding family planning should be provided.