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| Dr Samuel Kinner Wilson |
Wilson's Disease and
Copper Toxicity
Wilson's disease and copper toxicity, also known as hepatolenticular degeneration, is a rare inherited autosomal recessive disorder of copper metabolism, resulting in copper toxicity and dysfunction of several organs such as the liver, central nervous system, eyes and kidneys.
The disease bears the name of the
British physician Dr Samuel Alexander
Kinnier Wilson (1878-1937), a neurologist
who described the condition in 1912.
The worldwide prevalence of the Wilson disease is in the region of 30 in 1 million people.
As an essential nutrient, copper is a cofactor for at least 13 enzymes, which drives a crucial array of chemical reactions that underpin human health and development. The enzymes impact coagulation of blood, maintenance of a healthy immune system and cells and healthy muscle tone. It is therefore important to include copper in the daily diet.
Copper is available from a wide variety of foods such as grains, nuts, meats (liver and kidney), shellfish, legumes (peas and beans), seeds and dark chocolate.
After copper is ingested, it is absorbed from the small intestine into the bloodstream. Here, copper is bound to transport proteins, which carry it to the liver. It then gets distributed throughout the body.
Wilson's disease is caused by mutations in the ATP7B gene. The ATP7B gene provides instructions for making a protein that is important for copper transport and the elimination of excess copper from the body is found primarily in the liver, with smaller amounts in the kidneys and brain.
The mutated gene prevents the transport protein from functioning properly. Excess copper is therefore not removed from the body and can accumulate to toxic levels in the liver, brain, and other tissues.
Wilson's disease is inherited in an autosomal recessive pattern, which means the two copies of the gene in each cell must be mutated for the disease to manifest itself. Most often, the parents of an individual with an autosomal recessive disorder each carry one copy of the altered gene but do not show signs and symptoms of the disorder.
Wilson's disease is fatal unless detected and treated before serious illness from copper toxicity develops. If not treated, it can cause severe brain damage, liver failure, and death. |
