Causes and Treatment of Phenylketonuria

1278 Words6 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 id...

... middle of paper ...

...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.

More about Causes and Treatment of Phenylketonuria

Open Document