Lesch-Nyhan Syndrome synonyms

Lesch-Nyhan Syndrome, also known as Hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency, is a rare genetic disorder that primarily affects males. It is characterized by a deficiency of the enzyme HPRT, which leads to the accumulation of uric acid in the body.

Individuals with Lesch-Nyhan Syndrome may experience a range of symptoms, including severe neurological abnormalities, intellectual disability, self-injurious behaviors, and abnormal muscle tone. The self-injurious behaviors, such as biting fingers and lips, are a hallmark feature of this syndrome.

Other common symptoms of Lesch-Nyhan Syndrome include gout-like arthritis, kidney stones, and urinary tract problems. These symptoms are a result of the excessive production and accumulation of uric acid in the body.

Lesch-Nyhan Syndrome is caused by mutations in the HPRT1 gene, which is responsible for producing the HPRT enzyme. The inheritance pattern of this syndrome is X-linked recessive, meaning that the gene mutation is located on the X chromosome. As a result, males are more commonly affected by the disorder, while females are typically carriers.

There is currently no cure for Lesch-Nyhan Syndrome, and treatment primarily focuses on managing the symptoms and improving the individual's quality of life. This may involve medications to reduce uric acid levels, physical and occupational therapy to address motor abnormalities, and behavioral interventions to manage self-injurious behaviors.

In conclusion, Lesch-Nyhan Syndrome, also known as HPRT deficiency, is a rare genetic disorder characterized by severe neurological abnormalities, intellectual disability, self-injurious behaviors, and the accumulation of uric acid in the body. It primarily affects males and is caused by mutations in the HPRT1 gene. While there is no cure, treatment aims to alleviate symptoms and improve the individual's well-being.