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Lesch-Nyhan Syndrome Options
Daemon
Posted: Saturday, May 26, 2018 12:00:00 AM
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Lesch-Nyhan Syndrome

Lesch-Nyhan syndrome (LNS) is a rare genetic disorder that generally affects males, whose symptoms result from an enzyme deficiency that leads to increased levels of uric acid in the body. The buildup of this toxic waste product causes severe mental and physical problems, including impaired renal function, gout, cerebral palsy, and cognitive impairment. Suffers also often exhibit compulsive self-mutilating behaviors, such as lip and finger biting. Why is LNS rarely seen in women? More...
KSPavan
Posted: Saturday, May 26, 2018 4:00:43 AM

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Lesch-Nyhan Syndrome
Lesch-Nyhan syndrome (LNS) is a rare genetic disorder that generally affects males, whose symptoms result from an enzyme deficiency that leads to increased levels of uric acid in the body. The buildup of this toxic waste product causes severe mental and physical problems, including impaired renal function, gout, cerebral palsy, and cognitive impairment. Suffers also often exhibit compulsive self-mutilating behaviors, such as lip and finger biting.
monamagda
Posted: Saturday, May 26, 2018 9:45:53 PM

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Causes
Lesch-Nyhan syndrome is inherited as an X-linked genetic disease. X-linked genetic disorders are conditions caused by an abnormal gene on the X chromosome and occur mostly in males. Females that have a disease gene present on one of their X chromosomes are carriers for that disorder. Carrier females usually do not display symptoms because females have two X chromosomes, and one is inactivated so that the genes on that chromosome are nonfunctioning. It is usually the X chromosome with the abnormal gene that is inactivated. Males have one X chromosome that is inherited from their mother, and if a male inherits an X chromosome that contains a disease gene, he will develop the disease. Female carriers of an X-linked disorder have a 25% chance with each pregnancy to have a carrier daughter like themselves, a 25% chance to have a non-carrier daughter, a 25% chance to have a son affected with the disease and a 25% chance to have an unaffected son.

Males with X-linked disorders pass the disease gene to all of their daughters who will be carriers. A male cannot pass an X-linked gene to his sons because males always pass their Y chromosome instead of their X chromosome to male offspring.


The only gene known to be associated with Lesch-Nyhan syndrome is located on the long arm of the X chromosome (Xq27) and called HPRT1. Abnormalities (mutations) in the HPRT1 gene result in the absence or deficiency of the enzyme hypoxanthine-guanine phosphoribosyl transferase (HPRT) and the abnormal accumulation of uric acid in the blood.

https://rarediseases.org/rare-diseases/lesch-nyhan-syndrome/
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