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
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