Phenylketonuria Research Paper

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Phenylketonuria Research Paper

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Phenylketonuria:11 Facts you need to know about PKU (Step 1, COMLEX, NCLEX®, PANCE, AANP)

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Autosomal recessive disorders result when two copies of an atypical recessive gene are passed on. PKU, also known as Phenylketonuria, is a genetic disorder that builds up the amino acid phenylalanine in the human body. This genetic disorder is known to be an example of the norm of reaction. The norm of reaction defines itself as a phenotype range that a person with a certain genotype reveals due to the differing of a certain environmental condition. Phenylketonuria PKU is a rare genetic disorder that affects 1 in every 15, children.

Every child born in the united states of america is tested for PKU with in the first hours of life. There are many ways that it can present itself within the child, from small deformities like head size and small stature to mental retardation. PKU is caused by a mutation in the gene that helps make an enzyme called Phenylalanine hydroxylase. This enzyme is needed to convert the amino acid Phenylalanine into.

DNA is the genetic code that exists in all living organisms. Usually, DNA is replicated with the same genetic information. However, there are some mistakes which occur during the DNA replication, which will result in some complications and abnormalities in genes leading to genetic diseases. Genetic testing is usually required for a diagnostic reason if. As one acquires knowledge, one also encounters new opportunities to be explored.

This is true in the area of human genome research. The implications of The Human Genome Project and other attempts to further understand the human genetic code clearly demonstrate the basic principles of social benefit versus social cost. The desired effect is obviously one in which the benefits significantly outweigh the costs. The actual impact of such technology, however, remains only an estimate. Meaning, parents will know in advance the physical traits, any possible disease development, or other complications. With just a simple test done at the hospital PKU can be detected and managed so that they can grow into healthy adulthood. With the proper dietary plan someone with this autosomal-recessive disorder can. It is an inborn disorder, meaning it is developed and can be diagnosed at birth.

Phenylketonuria is found more often in the Native American and Northern European ethnic groups backgrounds. It is less commonly observed in people from Asian, African, or Hispanic groups. S National Library of Medicine, Phenylketonuria stems from an abundant buildup of an essential amino acid called phenylalanine that can become very dangerous when it reaches excessive levels U. National Library of Medicine, The excessive buildup of phenylalanine is caused by an alteration in the gene which codes. Introduction: In the United States alone, a genetic disorder known as Phenylketonuria PKU occurs in every 1 in 10, newborns, and has the capacity to cause severe mental deceleration. The causative agent of PKU is a single mutation in the PAH gene, which triggers the build-up of the amino acid phenylalanine.

Thanks to discoveries made over the last century, newborns are screened for the disorder at birth, and thus treatment can start promptly if needed. As of now, there is no cure for PKU, only. Using these facts, the difference in screening policy between the diseases will be morally justified. The arguments will relate to the desire for informed autonomy, the differing prognoses for the diseases, and the avoidance of moral conflict.

Have you ever heard of the genetic disorder called phenylketonuria? Phenylketonuria PKU if not treated, makes your pee stink mayoclinc. What do you think? Phenylketonuria through urine testing. Mange,4 He identified that it. Mange,4 He identified that it Phenylketonuria also known as PKU once had irrevocable and detrimental damage to the people it effected. Mange, Elaine J. Mange, Arthur P. Basic Human Genetics. Sinauer Associates, Inc.

Scriver, C. The Hyperphenylalaninemias. Annual Review of Genetics No Comments Add comment. Add your comment Cancel reply Comment. Your Name. Your Email. Your Website. Previous: Previous post: April to fall out. Small white round. Next: Next post: pes spoke with a very heavy accents. Search for:. Check it out. This site uses cookies: Find out more. Okay, thanks.

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