Lesch–Nyhan syndrome

Lesch–Nyhan syndrome (pronunciation: lesh-ny-han) is a rare, inherited disorder characterized by the overproduction of uric acid in the body. It is named after the two American doctors, Michael Lesch and William Nyhan, who first described the condition in 1964.

Etymology

The term "Lesch–Nyhan syndrome" is derived from the names of the two doctors who first identified and described the condition. Dr. Michael Lesch and Dr. William Nyhan were both practicing in the United States when they discovered the syndrome.

Symptoms

The symptoms of Lesch–Nyhan syndrome typically become apparent in the first year of life. They may include motor dysfunction, cognitive and behavioral disturbances, and the overproduction of uric acid. This overproduction can lead to gout, kidney stones, and kidney failure.

Causes

Lesch–Nyhan syndrome is caused by mutations in the HPRT1 gene. This gene provides instructions for producing an enzyme called hypoxanthine phosphoribosyltransferase, which is involved in the normal recycling of purines, a type of protein. Mutations in the HPRT1 gene disrupt the function of this enzyme, leading to an overproduction of uric acid.

Diagnosis

Diagnosis of Lesch–Nyhan syndrome is typically based on the presence of characteristic symptoms, a detailed patient history, a thorough clinical evaluation, and a variety of specialized tests. These tests may include blood and urine tests to measure levels of uric acid, and genetic testing to identify mutations in the HPRT1 gene.

Treatment

There is currently no cure for Lesch–Nyhan syndrome. Treatment is symptomatic and supportive, and may include medication to control the overproduction of uric acid and manage symptoms of gout, physical therapy to improve motor function, and various interventions to manage behavioral symptoms.

Related Terms

• HPRT1
• Uric acid
• Gout
• Kidney stones
• Kidney failure
• Motor dysfunction
• Genetic testing

External links

• Medical encyclopedia article on Lesch–Nyhan syndrome
• Wikipedia's article - Lesch–Nyhan syndrome

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