Phenylketonuria Research Papers

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Phenylketonuria is an inherited disorder which means it is passed down from the parent’s genome. 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. PKU can cause a harmful increase in levels of an amino acid known as phenylalanine in the blood, by interfering with the body’s ability to metabolize it. Individuals with PKU are unable to metabolize the amino acid because they have a deficiency of the enzyme phenylalanine hydroxylase. Too much phenylalanine can cause brain damage along with other very serious complications if not …show more content…

This test is normally done, along with a series of routine tests, on newborns before a he or she leaves the hospital. The test is done by cleaning an area of the infant’s skin with germicide and punctured with a needle. Three drops of blood are collected and placed on a piece of paper in three separate test circles. The puncture is covered with a bandage if bleed still occurs after the three drops are collected. The test paper with the blood samples is then sent to a lab, where a type of bacteria that requires phenylalanine to grow is introduced. A substance that blocks phenylalanine from reacting with anything else is also …show more content…

The trial was conducted on individuals ages 4-18 with parents written consent. The patients need to have been diagnosed with phenylketonuria and have a documented past medical history with at least 2 blood phenylalanine level greater than or equal to 400 micromoles per liter obtained in 2 separate occasions. The Kuvan (sapropterin dihydrochloride) was administered orally at a dose of 20 milligrams per kilogram per day once daily for 8 days. If there is 30 percent decrease in blood phenylalanine levels from baseline at the end of Day 8, then treatment will be continued at the same dose for further 6 weeks. Only one participant out of 90 dropped out of the study, due to an upper limb

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