BY: MARIA BEECHER Wilson’s Disease

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

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

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

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

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

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

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

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

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