What is it?• Wilsons disease is a

genetic disorder, where there is too much copper in the body.

• Small amounts of copper are needed in the body, but to much can be hazardous to the liver, brain, eyes, and other organs.

Hepatolenticular degeneration

• Another name for Wilson’s disease is Hepatolenticular degeneration.

• The special proteins in the liver are called Hepacytes • Degeneration of the liver and the central nervous

system.

Bile • Copper is absorbed from

your food, and any excess is excreted through bile required for the digestion of food, is excreted by the liver into passages

• In Wilson disease, copper does not pass from the liver into the bile, but rather begins to accumulate within the liver. 

How it was found • Wilson's disease is

named after Dr. Wilson, a doctor at the National Neurology Hospital in London.

• He discovered the disease in 1911

Mutations • Wilson’s disease is

caused by a mutation located on the 13th chromosome called ATP7B.

• Mutations in the ATP7B gene produce a protein with decreased ability to bind copper. 

• plays a role in the transport of copper

Inheritance• Autosomal recessive

disease• In order to inherit

Wilson disease, both parents must carry one genetic mutation

•  Wilson disease carriers, who have only one copy of the abnormal gene, do not have symptoms

Inheritance • When two people who carry the abnormal gene have a

child, there is a: – 1 in 4 chance that the child will have Wilson's

disease by inheriting the abnormal ATP7B gene from both parents)

– 2 in 4 chance that the child will not have Wilson's disease, but will be a carrier by inheriting the abnormal ATP7B gene from one parent but the normal gene form the other parent.

– 1 in 4 chance that the child will not have Wilson's disease, and will not be a carrier by inheriting the normal gene from both parents.

Symptoms • Wilson’s disease first attacks the liver, the

central nervous system, or both. • swelling of the liver or spleen• Jaundice• fluid buildup in the legs or abdomen• a tendency to bruise easily• fatigue

Diagnosis• The disease is diagnosed through a physical

examination and laboratory tests. • Physical: Slit lamp, a special light is used to look for

Kayser-Fleischer rings in the eyes. (a rusty brown discoloration at the rims of the corneas) become evident as the copper begins to affect the nervous system. 

• Laboratory tests: Measure the amount of copper in the blood, urine, and liver tissue. Urine collection will show increased copper in the urine in most patients who display symptoms   liver biopsy—a procedure that removes a small piece of liver tissue, this can show if the liver is retaining too much copper.

Diagnosis Count. • Laboratory tests: Measure the amount of copper in the

blood, urine, and liver tissue. Urine collection will show increased copper in

the urine in most patients who display symptoms  

liver biopsy—a procedure that removes a small piece of liver tissue, this can show if the liver is retaining too much copper.

Diagnosis • Wilson’s disease affects

the Basal Ganglia, the part of the brain affected by Wilson's disease

• The result of Wilson’s Disease on the Basal Ganglia affects involuntary movements, ability to learn and establishing postures.

Treatment • Treatment for Wilson disease is a life long process• Drugs : d-penicillamine and trientine hydrochloride

Both of these drugs release copper from organs into the bloodstream. Most of the copper is then filtered out by the kidneys and excreted moment.

• Zinc acetate prevents your body from absorbing copper from the food you eat. 

• Liver Transplant removes your diseased liver and replaces it with a healthy liver from a donor.

• Diet Reduced copper levels in food. Including, Chocolate, Nuts, Shellfish, and mushrooms.

At home remedies• Avoid high levels of copper in food. Things to avoid :

– Shellfish– Mushrooms– Nuts– Chocolate– Dried fruit

• Copper in water– If you have copper pipes, run the tap for several

seconds before collecting water for drinking or cooking. Water that sits in the copper pipes can pick up copper particles.

• Copper pots and pans – Don't use copper pots, pans or storage containers for

your food or drinks.

Summary • Genetic disorder, where there is too much copper in

the body.• Caused by a mutation located on the 13th chromosome

called ATP7B• Autosomal recessive disease• Wilson’s disease first attacks the liver, the central

nervous system, or both. • Treatment : Drugs, Zinc acetate, liver transplant or

healthy diet.