Glossary of terms used

Anaemia : A deficiency of red blood cells
Bile : A fluid that is secreted by the liver, stored in the gallbladder, and discharged into the duodenum and aids in the emulsification, digestion, and absorption of fats
Biochemical : The study of the chemical substances and vital processes occurring in living organisms
Caeruloplasmin : A copper containing blood protein synthesized by the liver and released into the blood. The normal caeruloplasmin level is 20-35 mg/100 ml of blood. Wilson's disease patients often exhibit low levels of serum caeruloplasmin.
Cerebral imaging or MRI : This is a noninvasive technique of magnetique resonance imagingto detect cerebral abnormalities
Cirrhosis : A chronic disease of the liver characterized by the replacement of normal tissue with fibrous tissue and the loss of functional liver cells
Consanguinity : Relationship by blood or by a common ancestor
Copper : Copper is a metallic element which is a necessary nutrient for normal growth and development. An average diet provides about 2mg of copper per day. The body only requires some of this copper and the excess must be eliminated from the body.
Chelator : Chelators are effective anti-copper drugs. They reduce the body's
level of copper by increasing the amount of copper excreted in the urine. Trientine
and penicillamine are chelators
DNA : A nucleic acid consisting of large molecules shaped like a double helix; associated with the transmission of genetic information
Genes : These are sections of DNA that are carried on the chromosomes and determine specific human characteristics, such as height or hair colour
Hepatomegaly : Abnormal enlargement of the liver
Fulminant : Occurring suddenly, rapidly, and with great severity or intensity
Jaundice : This is a yellow colour of the whites of the eyes due to a yellow pigment called bilirubin. Normally the liver clears bilirubin away from the bloodstream. If the liver is not working perfectly, the yellow bilirubin may stay in the blood.
Kayser-Fleischer rings : Copper accumulation in the eye may cause a golden-brown ring to form around the edge of the iris. This ring is only visible using a special instrument (slit-lamp) and is rarely present before the age of 10 years.
Liver Biopsy : Liver biopsy is a medical procedure performed in order to obtain a small sample of the liver. This is accomplished with a special needle, and does not leave a scar.
Maintenance therapy : Lifelong therapy with anti-copper drugs to prevent the reaccumulation of copper and copper toxicity. This phase of therapy occurs in patients who present with symptoms after copper toxicity has been brought under control by initial therapy. In presymptomatic patients, maintenance therapy begins when therapy is started. During maintenance therapy, monitoring for the long-term compliance with anticopper medications is necessary.
Metallothionein : A metal binding protein found in most tissues. When it binds to copper, metallothionein renders the copper non-toxic.
Pre-symptomatic : The disease has been diagnosed, but no symptoms have manifested
Zinc : an effective anti-copper treatment. Zinc acts by stimulating the production of metallothionein in intestinal cells. This metallothionein binds to the copper from foods and from gastrointestinal track secretions and therefore prevents its absorption into the body.

If you have any queries regarding your treatment or any other aspect of Wilson's disease please contact your doctor.