Lesch-Nyhan syndrome, also known as LNS, is a rare genetic disorder that primarily affects males. It is named after the two physicians who first described the syndrome: Michael Lesch and William Nyhan. LNS is caused by a mutation in the HPRT1 gene, which leads to a deficiency of the enzyme hypoxanthine-guanine phosphoribosyltransferase (HGprt).
The lack of this enzyme disrupts the normal recycling process of purines - a form of chemical compounds - within the body. As a result, excessive levels of uric acid accumulate in the body, leading to hyperuricemia, which is the main symptom of LNS.
Individuals with Lesch-Nyhan syndrome often display a range of symptoms including neurological abnormalities, such as involuntary muscle movements, known as dystonia, and self-injurious behavior, particularly biting and scratching themselves. Neurological manifestations may include spasticity, muscle rigidity, and even intellectual disabilities.
Additionally, affected individuals may exhibit other physical traits like poor muscle development, joint stiffness, kidney stones, and gout. Cognitive function and speech abilities can also be impaired to varying degrees.
Currently, there is no cure for Lesch-Nyhan syndrome, and treatment mainly focuses on managing symptoms and improving the individual's quality of life. This typically involves a multidisciplinary approach, including medications to control symptoms, physical and occupational therapy, behavioral interventions, and counseling for affected individuals and their families.
It is important for individuals with Lesch-Nyhan syndrome to receive comprehensive medical care and support to help enhance their overall well-being and minimize the impact of the disorder on their daily lives.
