Wilson's disease is a genetic disorder caused by a mutation on the ATP7B gene that results in too much copper being absorbed and retained in the body's organs like the liver and brain. It is typically diagnosed through tests measuring copper levels in the blood and liver tissue. Lifelong treatment focuses on removing excess copper through medication or transplant and preventing further copper absorption through diet.

2. 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.

3. 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.

4. 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.

5. 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

6. 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

7. 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

9. 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.

10. 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

11. 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.

12. 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.

13. 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.

14. 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.

15. 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.

16. 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.