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Glossary

asymptomatic = 
Some people with Wilson's Disease never show symptoms. These people are said to be "asymptomatic" (to not have symptoms).

autosomal recessive disease
= An inherited disorder which is equally likely to occur in either sex. Wilson's Disease is an autosomal recessive disease.

BAL (British Anti-Lewisite) = The first drug discovered to be effective in the treatment of Wilson's Disease. It is administered in a long series of painful injections. BAL was originally developed as an antidote for Lewisite. Lewisite a chemical warfare agent similar to mustard gas.

ceruloplasmin = a simple protein found in the blood which binds itself to copper so that copper may be moved about the body by the circulatory system. Over 90% of Wilson's Disease patients have abnormally low levels of blood ceruloplasmin.

chelate = A particular type of chemical reaction with a metal (such as copper). Many drugs used to treat Wilson's Disease "chelate" copper into a form which patients' bodies can eliminate.

cirrhosis = a disease of the liver in which normal cells are replaced by scar tissue, which inhibits the organ's many functions.

dysphagia = Difficulty in swallowing. It is common for the swallowing reflex to be impaired in persons with Wilson's Disease, things oftentimes "go down the wrong tube."

dystonia
= Involuntary movements and prolonged muscle contraction. The type of dystonia caused by Wilson's Disease causes patients to hold part of their body in an unnatural position.

Gastroenterology = The diagnosis and treatment of diseases of the digestive system

gene = A part of the DNA molecule which is responsible for the development of a certain characteristic.

hemolytic anemia = Anemia due to the destruction (rather than underproduction) of red blood cells.

jaundice = A yellowing of the skin and whites of the eyes usually caused by diseases of the liver or bile ducts.

Kayser-Fleischer rings = discoloration of the outer membrane of the iris caused by copper deposits. Although the ring is not present in all patients, it is never present in a person without Wilson's Disease. [ picture 1 - 92K ][ picture 2 - 14K ]

liver biopsy = a procedure, usually done while the patient is awake, in which a small piece of the liver is extracted with a special needle.

Menkes Disease = another genetic disorder of copper metabolism in which copper accumulates in excessive amounts in the liver, and is deficient in most other tissues of the body. Also known as Kinky Hair Disease.

penicillamine = Perhaps the most commonly use drug for the treatment of Wilson's Disease. It is a variant of penicillin and is also used in the treatment of rheumatoid arthritis. It's brand names are Cuprimine and Depen.

pyridoxione = See Vitamin B6.

renal = Relating to the kidneys. Wilson's Disease patients can sometimes cause the kidney to not function correctly.

trientine = a copper chelator sometimes used in the treatment of Wilson's Disease.

vitamin B-6 = Vitamin B-6 is used to counteract some of the side effects of Penicillamine.

zinc acetate (Galzin) = A drug used in maintenance therapy for Wilson's Disease that works by blocking absorption of copper in the digestive system, therefore preventing further copper accumulation. A person must first be "decoppered" by a chelating agent.

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