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Term & Conditions
It is a sporadic genetic disorder, which affects the copper metabolism in the body because of mutation in some gene on chromosome 13. It mainly affects children and adults between 5 to 35 years of age.
The human body is composed of cells, and each cell has got its’ own DNA, which is composed of chromosomes. These chromosomes are always present in pairs and are the basis of everything, our physical characteristics, attributes, mental and social behaviors, etc. These chromosomes are made up of various genetic codes and are responsible for every normal function in our body. But if due to any reason, this genetic code gets changed in any chromosome, it results in mutation and hence an abnormal functioning DNA or cell or causes any pathology.
As we know, the liver is one of the largest organs and is present in the right upper quadrant of the abdomen, and one of the primary functions of the liver is to metabolize different nutrients and minerals; the liver also metabolizes copper under normal conditions. When we eat food, copper is absorbed from the stomach and small intestine; it is absorbed and stored into the liver and is excreted in the bile in protein-bound form. This protein is known as Ceruloplasmin. Suppose this protein is not produced or gets damaged due to any reason. In that case, copper will not be excreted out of the body and accumulated in the liver and various other body tissues, and organs resulting in damage to them and manifesting different signs and symptoms discussed later.