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.