Lesch-Nyhan Syndrome (LNS) is an X-linked genetic disorder that affects the nervous and urinary systems. It is a rare disorder that primarily affects males, and is caused by a deficiency of the enzyme hypoxanthine-guanine phosphoribosyltransferase (HGPRT). The absence of this enzyme results in a build-up of uric acid in the body, which can cause a variety of symptoms and complications (Weinreb et al., 2018).
The primary symptom of LNS is self-injurious behavior (SIB), which can include biting, head-banging, and other forms of self-harm. Other symptoms include mental impairment, spasticity, gout, choreoathetosis, and kidney stones (Weinreb et al., 2018). LNS can also cause a variety of cognitive and behavioral problems, such as hyperactivity, impulsivity, and aggression.
The exact cause of LNS is unknown, but it is believed to be related to the genetic mutation of the HGPRT gene. This gene is responsible for producing the enzyme HGPRT, which is necessary for the breakdown of the purine bases hypoxanthine and guanine in the body. Without this enzyme, these two bases accumulate in the body, causing the body to produce excess uric acid, which is the primary cause of SIB in LNS patients (Weinreb et al., 2018).
There is currently no cure for LNS, but there are several treatments available to help manage the symptoms. Medications such as allopurinol can be used to reduce the production of uric acid in the body, while physical and occupational therapy can help with the physical symptoms. Behavioral interventions, such as anger management and positive reinforcement, can also be used to reduce SIB and other behavioral issues (Weinreb et al., 2018).
In conclusion, Lesch-Nyhan Syndrome is a rare, X-linked genetic disorder that primarily affects males. It is caused by a deficiency of the enzyme HGPRT, which leads to a build-up of uric acid in the body. The primary symptom of LNS is self-injurious behavior, and other symptoms can include mental impairment, spasticity, gout, choreoathetosis, and kidney stones. There is currently no cure for LNS, but there are several treatments available to help manage the symptoms.
References
Weinreb, N. J., Pineda, L. F., & Teitelbaum, J. (2018). Lesch-Nyhan Syndrome: Diagnosis, Clinical Features, and Treatment. Pediatrics in Review, 39(5), 263-271. doi:10.1542/pir.2017-0156