Genetic Disorders Caused By Enzymes
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Our body performs a number of anabolic and catabolic reactions right through the day. In order to complete these reactions, certain regulators are required
. Enzymes work as regulators and help to control these reactions. For instance, when we take the food, it is broken down in small parts and then distributed to our cells and tissues. Enzymes make this process possible and ultimately help in developing and maintaining the body function.Thus, proper functioning of body enzymes is very essential. Our genetic composition determines the necessary enzyme and its amount in our body.
Change in chemical structure of DNA causes mutation. Often, it does not have more negative effects, but sometimes the gene, which is very important to produce enzymes, is affected and causes a major problem.
LSDs or lysosomal storage disorders are one of the major disorders caused by enzymes. The gene, which causes the production of certain enzymes responsible for breaking down the waste, causes this disease when it undergoes mutation. The waste products are not broken. Instead, they are stored in lysosomes.
LSDs are generally autosomal recessive disorders, which occur when the altered gene is present on any one of total 22 autosomes.
Only Fabry and MPS II are X-linked recessive genetic disorders. This is a result of occurrence of altered gene on X chromosome.
An alteration in HEXA gene causes TSD or Tay-Sachs disease. Absence of enzyme hexosaminidase A is responsible for the mutation. This occurs mostly in children and damages their central nervous system.
Lack of enzyme secretion results another disorder, called Tyrosinemia. Here the amino acid named Tyrosine builds up in the blood, tissue and different organs as the necessary enzyme to breakdown the amino acid is not present in the body. This genetic disorder can lead to severe medical complications if not treated appropriately.
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