Lesch-Nyhan Syndrome is an extremely rare genetic disorder that primarily affects males. It is estimated to occur in approximately 1 in 380,000 to 1 in 380,000 live births. This prevalence may vary across different populations and geographic regions.
Lesch-Nyhan Syndrome is caused by a mutation in the HPRT1 gene, which leads to a deficiency of the enzyme hypoxanthine-guanine phosphoribosyltransferase (HPRT). This enzyme plays a crucial role in the recycling of purines, a type of molecule involved in DNA and RNA synthesis. The deficiency of HPRT results in the accumulation of uric acid in the body, leading to a range of symptoms.
The syndrome is characterized by a triad of symptoms, including severe neurological abnormalities, self-injurious behaviors, and overproduction of uric acid. Affected individuals may experience motor dysfunction, intellectual disability, spasticity, and involuntary movements. The self-injurious behaviors, such as biting fingers or lips, are a hallmark of the syndrome.
Due to its rarity, Lesch-Nyhan Syndrome often goes undiagnosed or misdiagnosed. Early diagnosis is crucial for appropriate management and supportive care. Treatment mainly focuses on symptom management, including medications to reduce uric acid levels and control neurological symptoms. Additionally, supportive therapies and interventions can help improve the quality of life for individuals with Lesch-Nyhan Syndrome.