Lesch-Nyhan Syndrome is a rare genetic disorder that primarily affects males. It is characterized by a deficiency of the enzyme hypoxanthine-guanine phosphoribosyltransferase (HPRT), which leads to the accumulation of uric acid in the body. This condition is caused by mutations in the HPRT1 gene located on the X chromosome.
Individuals with Lesch-Nyhan Syndrome experience a range of symptoms, including neurological and behavioral abnormalities. These may include self-injurious behaviors such as biting and head banging, as well as involuntary movements, intellectual disability, and developmental delays. The severity of symptoms can vary among affected individuals.
There is currently no cure for Lesch-Nyhan Syndrome, and treatment primarily focuses on managing the symptoms. Medications can help reduce the production of uric acid and alleviate some of the associated symptoms. Additionally, supportive care and therapies, such as physical and occupational therapy, can improve quality of life for individuals with this condition.
Lesch-Nyhan Syndrome is a complex disorder that requires ongoing medical management and support. Research efforts continue to explore potential treatments and interventions to improve the lives of those affected by this condition.