Essay On Wilsons Disease

Metabolism and genetics also participate in cirrhosis for example abnormal collection of iron (hemochromatosis) or copper (Wilson's disease) in the liver causing injury, scarring and cirrhosis. Further cause of cirrhosis is the Autoimmune chronic active hepatitis that happens when the immune system attacks the liver and causes inflammation, damage, and cirrhosis. Drugs and chemicals also cause injury of the liver.

The first disease Moalem discusses, hemochromatosis, is a hereditary disorder that he himself lives with. It causes excess iron buildup throughout the body, damaging “the joints, the major organs, and overall body chemistry” (p. 13). Hemochromatosis can lead to “liver failure, heart failure, diabetes, arthritis, infertility, psychiatric disorders[, ...] cancer” (p. 13) and, in the end, death. Although it is more common in some communities than others, today the low-penetrance disease only manifests in 1 in 200 people.

In the beginning, Metal Illness was treated like it was a special form of stupidity, but it is in fact a serious medical issue and shouldn’t be downgraded by ignorant stigma.

This syndrome is from a mutation of a gene on chromosome 15 and this causes problems in the production of fibrillin-1 which is a protein that is an important part of connective tissue. The name for the gene is FBN1. Basically, it is the “glue” that helps to support the tissues in the human body. A child born to a parent with this syndrome has a 50% of having it. However, in the remaining 25%, neither parent has the disease which gives them a 1 in 10,000 chance of having a child with this disorder. When a child of two unaffected parents is born with it then the genetic mutation occurs in either the egg or sperm cell at the time of conception.

This happens when an affected parent has one recessive gene and one dominant gene whereas the other has two recessive genes, which allows two children to get two recessive genes meaning they will not be affected. Whereas the other two have one dominant gene meaning they will be affected by the disease.

The first disease Moalem discusses, hemochromatosis, is a hereditary disorder that he himself lives with. It causes excess iron buildup throughout the body, damaging “the joints, the major organs, and overall body chemistry” (p. 13). Hemochromatosis can cause conditions such as “liver failure, heart failure, diabetes, arthritis,

Copper has been promoted as a bone disease preventative as horses use copper in bone, cartilage, and pigment formation.

poor health that he had to deal with since his childhood. Wilson always had a

mutation is phenylalanine 508 known as delta F508. Delta F508 is a deletion of 3 nucleotides

It is essential to treat Wilson's disease. The earlier treatment is started, the better the chance of preventing long-term permanent damage to the liver or brain.

It is an autoimmune condition. It is also inherited and also can be associated with medical conditions.

Inherited copper transport disorders are caused by a defect in the gene that decodes for copper-transporting ATPases. This defect interferes with how the human body utilizes copper which is manifested in disorders such as Wilson’s disease, Menkes Disease, and the rare Occipital Horn Syndrome. This article attempts to examine the types of copper transport disorders and focus on the clinical problems in diagnosis and treatments. Even though there are diagnosis methods and treatments for these diseases, there are still issues with the available resources. Readers would be interested in the larger work because early diagnosis and treatment of this disease is critical in managing the disorders.

A way to treat Wilson disease is with a lifelong amount of medication to reduce and control the amount of copper in the body. Treatment may include

Progressive hepatolenticular disease, or more commonly known as Wilson’s Disease, is a rare autosomal recessive genetic disorder of copper metabolism that is characterized by hepatic and neurological disease. While there is no cure for Wilson’s Disease, there are several treatments that can effectively manage the symptoms. The predominant form of treatment for Wilson’s Disease is heavy metal toxicity medication which utilize copper chelators to prompt the organs in the body to release copper into the bloodstream and excreted via urine after kidney filtration or zinc to reduce copper absorption (Ala et. al, 2007). Medications for Wilson’s Disease include penicillamine, trientine, and zinc acetate. Besides medications, other current therapeutic

Based on those findings, Wilson performed an experiment on a person suffering from hypercholesterolemia (FH). This certain disease forbids the liver from processing cholesterol.