What is a common clinical feature of Lesch-Nyhan syndrome?

What is a common clinical feature of Lesch-Nyhan syndrome?

• A. Increased uric acid
• B. Parese associated with spasticity
• C. Seizures
• D. Blue sclera

Answer: (A)

A common clinical feature of Lesch-Nyhan syndrome is increased uric acid levels, which primarily result from a deficiency of the enzyme hypoxanthine-guanine phosphoribosyltransferase (HGPRT). This enzyme plays a crucial role in the purine salvage pathway, and its deficiency leads to the accumulation of uric acid due to increased de novo purine synthesis. Consequently, individuals with Lesch-Nyhan syndrome often experience hyperuricemia, which can lead to gouty arthritis, kidney stones, and associated health complications. The other options represent conditions or features that are not specifically associated with Lesch-Nyhan syndrome. For example, while paresis with spasticity, seizures, and blue sclera can be seen in a variety of neurological and genetic disorders, they are not hallmark features of Lesch-Nyhan syndrome. Thus, recognizing the elevation of uric acid as a defining characteristic helps in understanding and diagnosing Lesch-Nyhan syndrome correctly.

A common clinical feature of Lesch-Nyhan syndrome is increased uric acid levels, which primarily result from a deficiency of the enzyme hypoxanthine-guanine phosphoribosyltransferase (HGPRT). This enzyme plays a crucial role in the purine salvage pathway, and its deficiency leads to the accumulation of uric acid due to increased de novo purine synthesis. Consequently, individuals with Lesch-Nyhan syndrome often experience hyperuricemia, which can lead to gouty arthritis, kidney stones, and associated health complications.

The other options represent conditions or features that are not specifically associated with Lesch-Nyhan syndrome. For example, while paresis with spasticity, seizures, and blue sclera can be seen in a variety of neurological and genetic disorders, they are not hallmark features of Lesch-Nyhan syndrome. Thus, recognizing the elevation of uric acid as a defining characteristic helps in understanding and diagnosing Lesch-Nyhan syndrome correctly.