1. BY: MARIA BEECHER Wilson’s Disease

2. Intro Samuel Alexander Kinnier Wilson 1 in 30,000 people Rare genetic disease  Build up of copper Affected organs won’t function properly Eastern Europeans, Sicilians, and southern Italians

3. Inheritance Autosomal recessive Wilson’s disease: two copies of the mutated gene Parents that are carriers: 25% chance of child having disease  Show no symptoms or signs

5. Cause Mutation in ATP7B gene on chromosome 13 ATP7B gene provides instructions for making a protein  transports copper  removes excess copper

6. Related Gene PRNP gene: has instructions for making prion protein Prion protein: removes copper Variations in the PRNP gene  Affect position 129 of prion protein  Can delay the age of onset  Symptoms affecting the nervous system

7. Symptoms Physical symptoms Abnormal posture/movement of legs and arms Enlargement of the abdomen Tremors of the arms or hands Yellowing of skin/eye Kayser-Fleischer rings Neurologic/psychiatric symptoms: Confusion or delirium Dementia Personality changes Depression Intellectual deterioration

9. Diagnosis Complete blood count Serum ceruloplasmin Serum copper Serum uric acid Urine copper Abdominal X-ray/MRI/CT scan Liver biopsy

10. Treatment Remove accumulation of excess copper Chelation therapy drugs  Penicillamine, Zinc acetate and Trientine Liver transplantation Vitamin E supplements Low copper diet Avoid copper utensils

11. Summary Autosomal recessive disease Mutation in ATP7B gene Symptoms appear 6-40 Lab tests and examinations Long-term medical treatment

12. Works Cited EuroWilson. What is Wilson's Disease? n.d. 4 December2013. web. Genetic and Rare Diseases Information Center. Wilson Disease. 19 2 2010. 2 December 2013. web. Geneva Foundation for Medical Education and Research. Wilson Disease- Eyes. 21 August 2012. 3 December 2013.web. U.S National Library of Medicine. Wilson's disease. 31 October 2013. 4 November 2013. web. —. Wilson's Disease. February 2007. 3 December 2013.web. Weiss, Karl Heinz. Wilson's Disease. n.d. 2 December 2013.web. Wilson Disease Association. Copper Connection. 2012. 1 December 2013. web.