Phenylketonuria Research Paper

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Phenylketonuria is not a very common genetic disease. Results show that it only affects one out of fifteen thousand babies born in the United States. Phenylketonuria is commonly known as PKU, but can be known as PAH deficiency, hyperphenylalaninemia. PKU was first named by a Norwegian physician named Asbjørn Følling. He is one of the first physicians to apply chemical methods to the study of medicines. In 1934, a mother of two intellectually impaired children found Dr. Følling and asked for his help. She wanted to ascertain whether the strange musty odor of her children’s urine are caused by their intellectual impairment. The samples were being tested by a number of substances including a substance called ketones. When urine is being tested by ketones, it usually develops a red-brown …show more content…
Through diet low in protein and restricted amount of fruits, vegetable, etc. The special diet should be started right after the baby with the disease is born because regular infant formulas and breast milk contain phenylalanine, so babies with PKU need to consume a formula that is phenylalanine free. It is very important for pregnant women that has phenylketonuria to have a low phenylalanine diet throughout her pregnancy because if they don’t, their phenylalanine levels in blood can become high and harm the developing child or cause a miscarriage. Even women with mild PKU may place their unborn children at risk. Babies born with mothers who have high levels of PKU do not often inherit it but if the level of phenylalanine is high in the mother’s blood, the babies will have serious consequences. Furthermore, they also need to restrict foods with high proteins such as milk, cheese, eggs, nuts, beans and etc. They would need to keep a record of food eaten to be sure they have enough nutrient and that they will not eat too much high

Phenylketonuria Research Paper

Phenylketonuria occurs in every 1 to 10,000 women, and is susceptible to European descents and Native Americans. Phenylalanine hydroxylase also known as the PAH gene, gives special instructions to phenylalanine in order for its breakdown. Phenylalanine hydroxylase…

Words 744 - Pages 3

Phenylketonuria Research Paper

Phenylketonuria Even though Phenylketonuria is rare, please be aware! Phenylketonuria or as usually known as PKU is an innate disorder of metabolism that causes an increase in the blood of a substance recognized as phenylalanine. It is caused by the heredity of the human body and be diagnosed. However, PKU could be possibly found through symptoms such as mental retardation and other severe symptoms. Strict diets are also an example of treatments for PKU. The way PKU is diagnosed is through a test…

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Phenylketonuria Research Paper

Introduction Phenylketonuria (PKU) is an autosomal recessive inherited condition[1] which causes a build up in the concentration of phenylalanine (Phe) in the blood. A deficiency in phenylalanine hydroxylase (PAH), which is found in the liver[2-3] causes this build up as this is the enzyme which catalyses the reaction which adds a hydroxyl group to Phe to form tyrosine (Tyr).[1] Due to the congenital nature of this condition, it is tested for just after the time of birth by testing the a blood…

Words 1250 - Pages 5

Phenylketonuria Research Paper

Phenylketonuria, or PKU, is a genetic disorder in which the level of an amino acid called phenylalanine exists at an exorbitant level in the blood. This is caused by the body’s inability to properly metabolize phenylalanine, which is caused by a defect in the gene that creates the enzyme responsible for breaking down phenylalanine, known as a PAH gene.1 This condition was discovered by Dr. Ivar Asbjørn Følling, in 1934. Dr. Ivar Asbjørn Følling had received two young children, both of whom suffered…

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