Papers > Medical > inborn errors of metabolism PKU and TSD
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inborn errors of metabolism PKU and TSD
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Metabolism is the process which cells derive the energy from food to help them survive and reproduce. If someone cannot perform certain chemical processes that are hereditary in nature, they are said to have inborn errors of metabolism.
There are 2 common inborn errors of metabolism, they are Tay ¡V Sachs Disease and Phenylketonuria.
Tay ¡V Sachs Disease (TSD) is a fatal disease that develops during the third to the sixth month of an infant¡¦s life. ... This disease seriously affects the Jewish community, approximately 1 out of 27 Jew is a TSD carrier. [1] TSD is caused by the lack of an enzyme called hexosaminidase A (Hex-A). ... Infants who have TSD appear healthy at birth, and they develop normally in the first few months, so no indications are shown that the infants have this genetic disease. ... Most people with TSD do not live past the age of eight because of infections and their body cannot fight against the infections as their body totally deteriorates.
Up to this moment, a cure still does not exist for TSD, also, there is no available treatment. ... There are several methods to test if a person is a TSD carrier.
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Paper Information
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Title: inborn errors of metabolism PKU and TSD
Words: 983
Rating: None
Pages: 3.9
submitted by: porkchan
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