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Research paper about phenylketonuria
Phenylketonuria features
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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 id...
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...lowing more freedom on their diet.
Works Cited
Schuett, Virginia. “What is PKU?” pkunews.org. n.p, February 2008. Web. 17 November 2013.
Guttler, Flemming, and Colleen Azen. "Relationship Among Genotype, Biochemical Phenotype, And Cognitive Performance In Females With Phenylalanine Hydroxylase Deficiency: Report From The Maternal Phenylketonuria Collaborative Study." Pediatrics 104.2 (1999): 258-262. Academic Search Premier. Web. 17 Nov. 2013.
Moats, Rex A., et al. "MR Imaging And Spectroscopy In PKU." Mental Retardation & Developmental Disabilities Research Reviews 5.2 (1999): 132-135. Academic Search Premier. Web. 17 Nov. 2013.
Widaman, Keith F. "Phenylketonuria In Children And Mothers: Genes, Environments, Behavior." Current Directions In Psychological Science (Wiley-Blackwell) 18.1 (2009): 48-52. Academic Search Premier. Web. 17 Nov. 2013.
Genetic disorders can be caused by many of the 46 chromosomes in human cells. This specific disorder is linked to a mutation in the long arm of the X, or 23rd chromosome. The mutation is recessive, meaning a normal X chromosome can hide it. Females have two X chromosomes allowing them to hide the mutated recessive one, making them a carrier of the gene, while males only have one X chromosome, meaning that they are unable to hide the mutation and they become effected by the disease. Therefore if a male carries the gene, he is affected because he has no way of dominating the recessive gene, but if a female carries it, she is only a carrier and has a 50/50 chance of passing it on to her baby. This may seem like a high probability however, only one in every fifty thousand male births will have this immunodeficiency disease.
Shonkoff, J., Boyce, W., & McEwen, B. (2009). Neuroscience, molecular biology, and the childhood roots of health disparities: Building a new framework for health promotion and disease prevention. JAMA: Journal of the American Medical Association, 301(21), 2252-2 259.
Volker, M.A., Lopata, C., Smerbeck, A.M., Knoll, V.A., Thomeer, M.L., Toomey, J.A., and Rodgers, J.D. (2009) BASC-2 PRS profiles for students with high-functioning autism spectrum disorders. Journal of Autism and Developmental Disorders, 40, 188-199.
6. Bellinger, D., Leviton, A., and Sloman, J. "Antecedents and Correlates of Improved Cognitive Performance in Children Exposed in Utero to Low Levels of Lead." Environmental Health Perspectives. 1990; 89: 5-11.
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Hollandsworth, James G. (1990). The Physiology of Psychological Disorders. Plenem Press. New York and London. P.111.
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