Phenylketonuria Research Paper

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Aspartame is an artificial sweetener that is used to enhance the flavor of food and beverages. Diabetics tend to have an increased intake on artificial sweeteners due to the lack of sugar content. Aspartame is two hundred times sweeter than sucrose which is classified as normal table sugar and the taste of artificial sweeteners lasts much longer. These sweeteners are also known as equal and sweet and low. The chemical components that make up aspartame include amino acids, phenylalanine and aspartate or aspartic acid.
Phenylalanine can be described as an aromatic amino acid that can contribute to major functions or processes within the body to create a response. Phenylalanine can be converted into tyrosine, which makes it a neurotoxin that …show more content…
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 is the actual enzyme that helps phenylalanine convert into a tyrosine, with the help of tetrahydrobiopterin also known as BH4. This is an important function because tyrosine produces several hormones, which mainly consists of neurotransmitters; If the neurotransmitters subject defects on the PAH gene or the recycled fragments of BH4, it could lead to intellectual …show more content…
If PKU goes untreated, it can lead up to permanent brain and nerve damage. Women with uncontrolled PKU levels can cause birth defects to the fetus due to the levels of toxicity that can be transmitted through the umbilical cord. PKU is inherited by an autosomal pattern, which applies that both alleles carry the mutation. PKU is usually screened at birth through neonatal testing, which is done by testing the actual amount of enzyme within the blood stream, while using filter paper. The overall effects of phenylalanine hydroxylase deficiency can lead to severe mental retardation, and irreversible brain damage due to the mutated alleles within the inherited genes. Infants are most susceptible and carry noticeable symptoms. Some of these signs and symptoms include a musty odor, develop mental delay, and pale hair and skin. Symptoms can appear when infants start to eat more solid foods that their bodies cannot break
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