LESCH NYHAN DISEASE Meaning and
Definition
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Lesch Nyhan disease, also known as Lesch-Nyhan syndrome, is a rare genetic disorder characterized by the deficiency of the enzyme hypoxanthine-guanine phosphoribosyltransferase (HPRT). This enzyme plays a crucial role in the metabolic pathway that regulates the production of uric acid and the recycling of purine nucleotides. The lack of HPRT activity leads to the excessive accumulation of uric acid in the body, resulting in numerous severe symptoms.
The main features of Lesch Nyhan disease include neurological abnormalities, cognitive impairment, involuntary movements (dystonia), and the presence of uric acid crystals in the joints and urinary tract. Affected individuals often exhibit self-injurious behaviors, such as biting their own lips and fingers, which can lead to severe tissue damage. Intellectual disabilities, developmental delays, and movement disorders are also common in individuals with Lesch Nyhan disease.
The condition is inherited in an X-linked recessive pattern, meaning it primarily affects males, with females typically being carriers of the mutated gene. Symptoms usually become apparent in early childhood, and the severity of the disease can vary widely among individuals.
Although there is currently no cure for Lesch Nyhan disease, management typically focuses on supportive care, including medications to reduce the severity of symptoms and prevent complications. Physical therapy and assistive devices may be utilized to improve mobility and overall quality of life. Genetic counseling is encouraged for families with a history of Lesch Nyhan disease to understand the risk of passing on the mutated gene.
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