Phenylketonuria

Phenylketonuria (PKU) Phenylketonuria was discovered in 1934, by a Norwegian doctor named Asbjorn Folling. Phenylketonuria, or PKU, is located on the twelfth part chromosome, and is an autosomal recessive condition, which you inherit from your pargonnts. It fag sustain arduous mental retardation, and death, if non treated. This is unity of m any(prenominal) inheritable diseases you back end inherit from your parents. PKU is inherited when both 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 another(prenominal) 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 lev els are too high. This enzyme experience ats the chemical phenylalanine hydroxylase, and converts it into tyrosine. Then, tyrosine and any left over phenylalanine are carried into the bloodstream, where they head for the hills to the instinct and opposite organs. The vicissitude 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 leave behind 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 cosmos able to produce tyrosine, so lethal amounts of phenylalanine are released into the bloodstream. nonentity 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 intellectual cortex, which is the part of the brain that makes decisions and sense! s the distant world. If the phenylalanine levels are not reduced, mint with PKU will acquire undersized neurons that...If you want to disembowel a full essay, severalise it on our website: OrderEssay.net

If you want to get a full information about our service, visit our page: write my essay