Up to 50% Off + 10% Off! Code: SPOOK Ends: 10/31 Details
  1. Help

Jared Austin - Lesch-Nyhan Syndrome

Hello, you either have JavaScript turned off or an old version of Adobe's Flash Player. Get the latest Flash player.

Jared Austin - Lesch-Nyhan Syndrome - Page Text Content

BC: The End

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.

Sizes: mini|medium|large|enormous
Default User
  • By: posta c.
  • Joined: almost 6 years ago
  • Published Mixbooks: 1
No contributors

About This Mixbook

  • Title: Jared Austin - Lesch-Nyhan Syndrome
  • Tags: None
  • Started: almost 6 years ago
  • Updated: almost 6 years ago

Get up to 50% off
Your first order

Get up to 50% off
Your first order