Lesch-Nyhan disease

Because there are currently no established effective therapies available for the neurobehavioural features of Lesch-Nyhan disease (LND), primary prevention is the most important medical intervention. This includes genetic counselling 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 pre-implantation, or antenatal diagnosis if the family would consider termination in the case of an affected pregnancy. Appropriate guidance regarding family planning should be provided.