Lesch-Nyhan Syndrome

By SWA

Lesch-Nyhan syndrome is a rare inherited disorder caused by a deficiency of the enzyme hypoxanthine-guanine phosphoribosyltransferase (HGPRT), which plays a significant role in the recycling of purines in cells. Purines are essential molecules that serve numerous roles in the body, including the building blocks of DNA and RNA.

The lack of HGPRT causes abnormalities in the way the body builds and breaks down purines, leading to an overproduction of uric acid, a substance that is normally found in urine in small amounts. High levels of uric acid can lead to a range of problems, including gout, kidney stones, and kidney failure.

This syndrome is much more than a metabolic disorder, however, as it also involves neurological and behavioral symptoms. The condition is characterized by the following:

  1. Neurological dysfunction: Individuals with Lesch-Nyhan syndrome often present with muscular hypertonia (increased muscle tone), dystonia (involuntary muscle contractions), and chorea (sudden, rapid, jerky movements). These neurological manifestations typically lead to severe impairment of motor function.

  2. Cognitive impairment: While intelligence can vary widely among people with this condition, there are often some levels of cognitive impairment.

  3. Behavioral disturbances: One of the most striking and challenging aspects of Lesch-Nyhan syndrome is the presence of self-injurious behaviors. Affected individuals often display behaviors such as biting of the lips and fingers, head banging, and other forms of self-harm. They may also show signs of aggression, irritability, and impulsivity.

Lesch-Nyhan syndrome is an X-linked recessive disorder, which means the gene responsible for the condition is located on the X chromosome. As males have only one X chromosome (with the other being a Y chromosome), they are more likely to express symptoms if they inherit the affected gene. Females, on the other hand, have two X chromosomes, so if they inherit one affected X chromosome, they usually become carriers without experiencing severe symptoms since the other X chromosome likely has a functioning version of the gene.

There's currently no cure for Lesch-Nyhan syndrome. Treatment focuses on managing symptoms and may include medication to control uric acid levels, physical therapy to address motor issues, and behavioral interventions to manage self-injurious behaviors. Despite these measures, the condition is associated with significant morbidity and can impact lifespan.

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