Lesch-Nyhan Syndrome (LNS)

Lesch-Nyhan Syndrome (LNS) is a rare genetic disorder that affects the metabolism of purines, resulting in a range of physical and behavioral symptoms.

Cause of Lesch-Nyhan Syndrome

LNS is caused by a mutation in the HPRT1 gene, which provides instructions for producing an enzyme called hypoxanthine-guanine phosphoribosyltransferase (HGPRT). This enzyme plays a crucial role in the recycling of purines, which are important building blocks of DNA and RNA.

Symptoms of Lesch-Nyhan Syndrome

Individuals with LNS often exhibit a characteristic set of symptoms, including:

• Hyperuricemia: Elevated levels of uric acid in the blood, leading to the formation of kidney stones and gouty arthritis.
• Neurological and behavioral abnormalities: These may include self-mutilating behaviors such as lip and finger biting, as well as spastic movements, dystonia, developmental delays, and cognitive impairment.
• Neuropsychiatric symptoms: These can manifest as aggressive behaviors, impulsivity, and difficulty controlling emotions.

Diagnosis of Lesch-Nyhan Syndrome

Diagnosis of LNS usually involves a combination of clinical evaluation, genetic testing, and measurement of uric acid levels in the blood and urine.

Treatment and Management of Lesch-Nyhan Syndrome

Currently, there is no cure for LNS. Treatment mainly focuses on managing symptoms and preventing complications. This may include medications to control uric acid levels, physical and occupational therapy for movement abnormalities, and behavioral interventions for self-injurious behaviors.

Prognosis

The prognosis for individuals with LNS is generally poor, as the disorder is progressive and often leads to severe disability. Life expectancy can be reduced, although with proper care and support, individuals with LNS can have a meaningful and fulfilling life.