Lesch-Nyhan Syndrome

Lesch-Nyhan syndrome is a rare inherited disorder of metabolism that mainly affects males and that alters the way the body processes certain substances, producing an excess of uric acid.

Manifestations that may appear: Movement disorders, developmental delay, problems related to uric acid, and self-harming behaviors in the most characteristic cases.

Underlying cause: It is due to a genetic defect in an enzyme responsible for recycling components of the body, which leads to their accumulation.

Professional follow-up: The pediatrician coordinates the child's care together with specialists in metabolism and neurology. When developmental or movement disorders appear from childhood, an early medical evaluation is key to guiding appropriate care.