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Jared Austin - Lesch-Nyhan Syndrome

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FC: Jared Austin | Lesch-Nyhan Syndrome

1: The first case was recognized by a medical student Michael Lesch and his mentor Bill Nyhan.

2: LNS is caused by a deficiency of the HGPRT enzyme produced by mutations in the HGPRT gene located on the X chromosomes passes down by an autosomal recessive gene

4: LNS is present at birth in baby boys even though there can be no family history of the disease. LNS affects one in 380,oo0 births.

9: LNS is characterized by three major symptoms: Neurologic dysfunction, cognitive and behavioral disturbances including self mutilation, and uric acid overproduction resulting in hyperuricemia.

10: The overproduction of uric acid can be controlled by a drug to stop the conversion of ocypurines into uric acid | Treatments

11: One possible treatment is deep brain stimulation which uses a continuos electric current to a specific region of the brain. The treatment shows a decrease is self injurious symptoms. | But no other treatment for the disorder for the neurological aspects have been found

12: People with LNS typically pass by the time they are 10 or 20 due to the fact of a poor life with many complications | Survival Rate

20: A family is pieced together with hope and faith. A family is quilted and bound with love and grace.

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  • Title: Jared Austin - Lesch-Nyhan Syndrome
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  • Started: over 7 years ago
  • Updated: over 7 years ago