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Causes And Treatment Of Phenylketonuria Essay

1585 words - 6 pages

Phenylketonuria (PKU) is a genetic disorder that can cause mental retardation if not treated at an early age, the causes for its permanent effect on the brain according to Keith F. Widaman occurs when, “the metabolism of phenylalanine into tyrosine is disrupted. If the diet of an infant with PKU is not restricted, blood phenylalanine levels are elevated, leading to irremediable brain damage” (48). The first person who discovered Phenylketonuria genetic disorder is the Norwegian biochemist, Folling in 1934, he achieved it by testing many of his patients who were mentally ill, and founded that phenylalanine presented in many of their test results (Widaman, 48). Later on the cause of the illness was identified to be, “PKU is caused by identifiable genetic defects and is associated with high levels of phenylalanine in the blood” (Widaman, 48). Many Mental illnesses are being caused by Phenylketonuria, a disorder in which by starting the treatment at an early age, and giving the newborns affected by PKU the proper diet; it is possible to prevent the brain damage that it can cause.
PKU is a genetic disorder meaning it needs to be inherited from the parent to their new born baby; in order for the baby to be born with this disorder it is required for the baby to inherit it from both parents and also both parents being a “silent carriers”, people who are not infected with the diseases but have the ability to inherit it to their child (Schuett). The number of the “silent carriers” of PKU gene is one in fifty people, but due for the need of having both parents to be carriers of the gene, the chance to have two carriers mating is “only one in 2500” (Schuett). According to Virginia Schuett, “Over 500 different genetic mutations have been identified that result in defective functioning of the phenylalanine hydroxylase enzyme, resulting in elevated phenylalanine levels” (Schuett). She also states that each of the mutations can have effects on the enzyme activity of the affected person (Schuett). PKU can be classified into different categories one of them being the four “arbitrary” categories which are the followings: “sever PKU, moderate PKU, mild PKU, and mild hyper phenylalaninemia” (Guttler, Azen, et al. 259). Another categorization system of PKU will be discussed in more detail, which has been used in the article “MR Imaging and Spectroscopy in PKU” written by Moats, Scadeng, and Nelson.
Keith F. Widaman in his article “Phenylketonuria in Children and Mothers” posits that the cause for PKU to have such permanent effects on the brain is through body’s essential need of phenylalanine, and when affected by PKU having problem using it. Widaman further more describes phenylalanine as an essential amino acid that carries the important rule of “protein synthesis” that is required to be taken from diet (48). Widaman later on adds that, “Normally, phenylalanine is metabolized into tyrosine, a nonessential amino acid that, in turn, is a precursor of several key...

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