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Lesch-Nyhan syndrome (LNS) 

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Lesch-Nyhan syndrome (LNS) is a rare, inherited disorder that affects the body's ability to process a type of waste product called uric acid. Uric acid is produced by the breakdown of purines, which are found in many foods and drinks.
In LNS, the body does not have enough of the enzyme hypoxanthine-guanine phosphoribosyltransferase (HGPRT). This enzyme is needed to convert uric acid back into other substances that can be excreted from the body.
As a result of the build-up of uric acid, people with LNS are at increased risk for kidney stones, gout, and other health problems. They may also experience neurological problems, such as developmental delay, intellectual disability, and self-injurious behavior.
In this lecture, we will discuss the following topics:
What is Lesch-Nyhan syndrome?
What are the causes of Lesch-Nyhan syndrome?
What are the symptoms of Lesch-Nyhan syndrome?
How is Lesch-Nyhan syndrome diagnosed?
How is Lesch-Nyhan syndrome treated?
We will also discuss the latest research on Lesch-Nyhan syndrome, including new treatment options that are being developed.
Lesch-Nyhan syndrome is a serious disorder that can have a devastating impact on individuals and their families. By understanding Lesch-Nyhan syndrome, we can better diagnose and treat this disorder and improve the quality of life for those affected.
Here are some additional details that you may want to include in your introduction:
LNS is an X-linked recessive disorder, which means that it is caused by a mutation in the X chromosome. This means that males are more likely to be affected than females.
LNS is estimated to affect 1 in 100,000 to 1 in 380,000 people worldwide.
There is no cure for LNS, but there are treatments available to help manage symptoms and improve quality of life. These treatments may include:
Medication to reduce uric acid levels
Physical therapy to help with mobility and coordination
Occupational therapy to help with daily living skills
Behavioral therapy to help manage self-injurious behavio

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9 ноя 2023

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Комментарии : 3   
@srain22
@srain22 16 часов назад
hipotonia masuk ke neurological problem? bukan neuromuscular problem?
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