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Definition/ WILSON'S DISEASE

Wilson's disease is an inherited disorder that causes too much copper to accumulate in your liver, brain and other vital organs. Another term for Wilson's disease is hepatolenticular degeneration.

Copper plays a key role in the development of healthy nerves, bones, collagen and the skin pigment melanin. Normally, copper is absorbed from your food, and any excess is excreted through bile — a substance produced in your liver.

But in people with Wilson's disease, copper isn't eliminated properly and instead accumulates, possibly to a life-threatening level. Left untreated, Wilson's disease is fatal. When diagnosed early, Wilson's disease is treatable, and many people with the disorder live normal lives.
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-Symptoms/ Wilson's Disease

-By Mayo Clinic staff

Wilson's disease causes a wide variety of signs and symptoms that are often mistaken for other diseases and conditions. Signs and symptoms vary depending on what parts of your body are affected by Wilson's disease.

-Signs and symptoms of Wilson's disease include:

*Clumsiness
*Depression
*Difficulty speaking
*Difficulty swallowing
*Difficulty walking
*Drooling
*Easy bruising
*Fatigue
*Involuntary shaking
*Joint pain
*Loss of appetite
*Skin rash
*Swelling of arms and legs
*Yellowing of the skin and eyes (jaundice)

-When to see a doctor

Make an appointment with your doctor if you have any signs and symptoms that worry you.

If a family member has been diagnosed with Wilson's disease, tell your doctor at your next appointment. Your doctor may recommend tests to determine whether you may have Wilson's disease.
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-Causes
-By: Mayo Clinic staff

-How the genetic mutation occurs

The genetic mutation that causes Wilson's disease is most commonly passed from one generation to the next. Wilson's disease is inherited as an autosomal recessive trait, which means that to develop the disease you must inherit two copies of the defective gene, one from each parent. If you receive only one abnormal gene, you won't become ill yourself, but you're considered a carrier and can pass the gene to your children.

-How the genetic mutation causes Wilson's disease
The mutation that causes Wilson's disease causes problems with a protein that's responsible for moving excess copper out of your liver.

Your body collects copper from the food you eat during the digestive process. The copper is transported to your liver where liver cells use it for everyday tasks. Most people eat more copper than they need. In these cases, the liver takes what it needs and excretes the rest in bile, a digestive juice made by the liver.

But in people with Wilson's disease, the extra copper doesn't leave your body. Instead, copper builds up in the liver, where it can cause serious and sometimes irreversible damage. In time, excess copper leaves the liver and begins accumulating in and harming other organs, especially the brain, eyes and kidneys.
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Wilson's disease can cause serious complications such as:
Scarring of the liver (cirrhosis). As liver cells try to make repairs to damage done by excess copper, scar tissue forms in the liver. The scar tissue makes it more difficult for the liver to function.Liver failure. Liver failure can occur suddenly (acute liver failure), or it can develop slowly over many years. If liver failure progresses, a liver transplant may be a treatment option.Liver cancer. Damage to the liver caused by Wilson's disease may increase the risk of liver cancer.Persistent neurological problems. Neurological problems usually improve with treatment for Wilson's disease. However, some people may experience persistent neurological difficulty despite treatment.Kidney problems. Wilson's disease can damage the kidneys, leading to kidney problems such as kidney stones and an abnormal number of amino acids excreted in the urine (aminoaciduria).~~
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