Phenylketonuria Research Paper

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Phenylketonuria, or PKU, is a genetic disorder in which a person’s body is unable to break down an important amino acid found in protein called phenylalanine. This disease can be found in 1 of 10,000 to 15,000 babies across the United States. This disease is mostly found in people of European or Native American heritage. However, PKU can be found the same amount in both women and in men. Phenylketonuria is carried on a recessive allele. As a result, both parents must pass down the same recessive allele for the disease in order for the baby to carry it. However, both parents do not need to have the disease to pass it on. PKU is a recessive allele that in most parents is overpowered by the dominant allele preventing PKU. Phenylketonuria is a genetic disorder in which a person’s body does not contain the enzyme that is necessary to break down an important amino acid found in protein called phenylalanine. As a result, some of the symptoms of this disease include the following: fair skin and hair due to lack of melanin synthases, dry skin patches or Eczema, light sensitivity, and hair loss. Some of the more serious symptoms of PKU are intellectual disabilities, 50% increase in epilepsy, and eye abnormalities. PKU is a disease that if treated early on, the diseases symptoms can be less serious. However if…show more content…
The first treatment is dietary treatment. Many patients use dietary restrictions by staying away from foods with high Phenylalanine content. Many of the foods that can be eaten are fruits, non-starchy vegetables, and specially order low protein items. The second treatment, are pills with neutral amino acids which help lower plasma levels and stop the phenylalanine from entering the brain. However, this treatment works better on patients with some of the enzyme in their bodies. Despite these finding scientists continue to try to find cures for this

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