Phenylketonuria was discovered in 1934, by a Norwegian doctor named Asbjorn Folling. Phenylketonuria, or PKU, is located on the 12th part chromosome, and is an autosomal recessive condition, which you inherit from your pargonnts. It fag cause arduous mental retardation, and death, if not treated. This is one of m any(prenominal) genetic diseases you back end inherit from your parents.
PKU is inherited when two parents, both of which are carries of the PKU gene, give the child the infected gene that they carry. The variety of the gene happens when any one of the many genes in the twelfth chromosome mutates, and miscellaneas it. This gene can then be passed down to the children of the individual carrying the disease, and they can become infected. PKU is essenti each(prenominal)y a want in the enzyme that receives and breaks down the chemical phenylalanine, which we need to survive, but can be lethal if its levels are too high. This enzyme look ats the chemical phenylalanine hydroxylase, and converts it into tyrosine. Then, tyrosine and any left over phenylalanine are carried into the bloodstream, where they move to the instinct and opposite organs. The mutation that causes PKU can do many things to change the enzyme.
Some examples are: a mutation can withstand the enzyme not recognize phenylalanine, and therefore not allow it to take it in and convert it to tyrosine. Other types of mutations will cause the enzyme to change state too retardly, and others make the enzyme unstable, so it breaks down and degrades. In all cases, the enzyme ends up not being able to produce tyrosine, so lethal amounts of phenylalanine are released into the bloodstream. Nobody knows for sure why phenylalanine poisons the brain and causes mental retardation, but one idea is that it can slow the development of the neurons in the cerebral cortex, which is the part of the brain that makes decisions and senses the distant world. If the phenylalanine levels are not reduced, people with PKU will acquire undersized neurons that...If you want to get a full essay, severalise it on our website: Ordercustompaper.com
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