Metabolism is the process in which nutrients are broken down within the body to create energy. This occurs through a series of chemical reactions, which, when disrupted, can be called a metabolic disorder. This occurs when the presence of a substance is missing or it is in a high quantity. These types of disorders occur when an organ is diseased, but can also be the result of genetics, like Wilson’s disease. Wilson’s disease is an autosomal recessive disorder in which there is a copper build-up in the body, and can be fatal unless diagnosed and treated early. Treatment options include zinc therapy, chelator therapy and in some cases, liver transplant.
The body uses copper as a key role in maintaining healthy development. Copper is beneficial
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The copper is normally absorbed at first, but it is not incorporated into caeruloplasmin and the excretion of copper within bile is reduced. An increase in the concentration of copper found within the cells of the liver causes excess copper to flow into the bloodstream; this increases the concentration of copper found within the plasma. Having the increased concentration of copper leads to a decrease of copper excreted through feces, and an increase in the concentration of urine.
Wilson’s disease often proves difficult to diagnosis at first because its symptoms mimic those of other hepatic disorders, and don’t present themselves until adolescence (around 12-23 years of age). For instance, the accumulation of copper in the brain may result in neurological/psychiatric symptoms. Having nowhere to go, copper accumulates in the major organs such as the liver, which results in the patient jaundicing or hepatitis; Kayser-Fleischer rings (copper rings surrounding the pupil) also form due to the copper retention. Patients will suffer a loss of appetite and abdominal pain, as well as fluid retention in the body; female patients have irregular menstruation patterns or fertility