Leschke syndrome

Leschke Syndrome is a rare genetic disorder characterized by a variety of symptoms and physical features that vary greatly in range and severity. It is also known as Lesch-Nyhan syndrome (LNS), named after the two doctors who first described it in 1964.

Symptoms

The symptoms of Leschke Syndrome can vary greatly from person to person. However, some common symptoms include:

• Hyperuricemia: An abnormally high level of uric acid in the blood.
• Neurological abnormalities: These can include mental retardation, behavioral problems, and self-mutilation.
• Gout: A type of arthritis caused by an excess of uric acid in the body.
• Kidney stones: These can be caused by the high levels of uric acid in the body.

Causes

Leschke Syndrome is caused by mutations in the HPRT1 gene. This gene provides instructions for producing an enzyme called hypoxanthine phosphoribosyltransferase 1, which is involved in the normal breakdown of purines in the body. Mutations in the HPRT1 gene disrupt the function of this enzyme, leading to an accumulation of purines in the body. This accumulation can cause the various symptoms associated with Leschke Syndrome.

Diagnosis

Diagnosis of Leschke 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 can include biochemical tests to measure the levels of uric acid in the body, genetic testing to identify mutations in the HPRT1 gene, and neurological tests to assess the presence and severity of neurological abnormalities.

Treatment

There is currently no cure for Leschke Syndrome, and treatment is symptomatic and supportive. This can include medication to control the levels of uric acid in the body, physical therapy to help manage neurological symptoms, and behavioral therapy to help manage behavioral problems.

See also

• Genetic disorders
• Neurological disorders
• Metabolic disorders

References

Leschke syndrome Resources
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