Understanding Lesch-Nyhan Syndrome: Causes, Symptoms, and Treatment Options

Lesch-Nyhan Syndrome

HGPRT deficiency-causes gout-like symptoms due to accumulation of hypoxanthine and guanine which leads to high uric acid-PRPP accumulation and more denovo synthesis of nucleotides b/c salvage pathway is blocked

Lesch-Nyhan Syndrome is a rare genetic disorder that affects the metabolism of purines – building blocks of DNA and RNA. The disease is caused by the absence of an enzyme called hypoxanthine-guanine phosphoribosyltransferase (HPRT), which is involved in the recycling of purines. The lack of this enzyme leads to abnormally high levels of uric acid, which can cause gout, kidney stones, and other health problems.

The symptoms of Lesch-Nyhan Syndrome typically appear during early childhood or infancy. The most characteristic features are involuntary repetitive movements of the arms, legs, and face, which are often referred to as self-injurious behavior. This behavior includes biting of fingers, lips, and tongue that may lead to injuries and infections.

Other symptoms of Lesch-Nyhan Syndrome may include:

– Intellectual disability
– Delays in development milestones like crawling and walking
– Dystonia (uncontrolled muscle movements)
– Oculogyric crises (sudden jerking movements of the eyes)
– Behavioral problems

Unfortunately, there is no cure for Lesch-Nyhan Syndrome, and treatment is focused on alleviating the associated symptoms. Medications such as allopurinol, which reduces uric acid levels, and antipsychotics, which control self-injurious behavior, have been found to be effective in some cases.

In conclusion, Lesch-Nyhan Syndrome is a rare genetic disorder that causes an absence of the enzyme HPRT, leading to elevated levels of uric acid and resulting in involuntary repetitive movements and self-injurious behavior. While there is no cure for the disease, treatment is available to help manage the symptoms.

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