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COPPER AND WILSON’S DISEASE

COPPER AND WILSON’S DISEASE. Luverne Malate April 12, 2012 HUN3231. COPPER. WILSON’S DISEASE. Also known as hepatolenticular degeneration An autosomal recessive disorder Affects 1 in every 30,000 people 1 in 90 are estimated to be carriers Caused by mutations in the ATP7B gene

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COPPER AND WILSON’S DISEASE

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  1. COPPER AND WILSON’S DISEASE Luverne Malate April 12, 2012 HUN3231

  2. COPPER

  3. WILSON’S DISEASE • Also known as hepatolenticular degeneration • An autosomal recessive disorder • Affects 1 in every 30,000 people • 1 in 90 are estimated to be carriers • Caused by mutations in the ATP7B gene • Limited excretion of copper from the bile resulting to an accumulation of copper

  4. Albumin Cu APO-CN Cu CuHis2 NADH Oxidase Ceruloplasmin Cu CTR1 Cu Ceruloplasmin APO-CN Cu Atox 1 Copper Concentrations ATP7B Biliary Canaliculus Cu Cu ATP7B Cu APO-CN Cu Cu

  5. SIGNS/SYMPTOMS

  6. Treatments

  7. REFERENCES • Crisponi G., Nurchi V., Fanni D., Gerosa C., Nemolato S., Faa G. Copper-related diseases: From chemistry to molecular pathology. Coordination Chemistry Reviews. 2010; 254:876-889. • Behari M., Pardasani V. Genetics of Wilsons disease. Parkinsonism and Related Disorders. 2010;16:639-644. • Crisponi G., Nurchi V., Fanni D., Gerosa C., Nemolato S., Faa G. Copper-related diseases: From chemistry to molecular pathology. Coordination Chemistry Reviews. 2010; 254:876-889. • Terada K., Schilsky M., Miura N., Sugiyama T. ATP7B (WND) Protein. The International Journal of Biochemistry & Cell Biology. 1998;1063-1067. • Khouja N. Wilson’s Disease. Parkinsonism and Related Disorders. 2009;1553:5126-5129. • Angelova M., Asenova S., Nedkova V., Kolarova R. Copper in the Human Organism. Trakia Journal of Sciences. 2011; 9:88-89. • Samiullah S., Salma S., Faheemullah S., Iftikar K. Wilson’s Disease: Various Shapes Of One Disease. Pak J Med Sci. 2010;26:158-162.

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