Phenylketonuria

Phenylketonuria (PKU) is a genetic disorder caused by a defect in the gene that helps create the enzyme phenylalanine hydroxylase. This enzyme helps to breakdown the amino acid phenylalanine; without this enzyme the levels of phenylketonuria (PKU) increases, this causes serious cognitive disabilities, hyperactivity, seizure, and abnormal small head (microcephaly) in infants, and small risk of brain damage.1 Phenylketonuria can affect pregnant women, babies, children and adults. Therefore, people who have the disease need to maintain a diet low in protein. Approximately 10,000 out of 15,000 babies are affected with phenylketonuria (PKU). This disease is more common in Irish, northern European, Turkish, or Native American people. Babies are test…

Phenylketonuria is an autosomal recessive disorder and a common metabolic cause of mental retardation. This inborn error of metabolism is characterized by a deficiency in phenylalanine (Phe) hydroxylase activity, due to mutations in the Phe hydroxylase (PAH) gene. Phenylalanine hydroxylase is responsible for converting Phe to Tyr and requires the cofactor tetrahydrobiopterin (BH4), molecular oxygen, and iron for its action (Blau et al., 2010). The reductant, BH4 is maintained in the reduced…

Description: Phenylketonuria, also known as PKU, is a genetic disorder caused by the mutation of the PAH gene. The PAH gene is responsible for creating the enzyme phenylalanine hydroxylase. This enzyme breaks down the amino acid phenylalanine into tyrosine for the body. This mutation causes the PAH gene to not break down the phenylalanine and because so, dangerous and toxic levels of phenylalanine can build up in the blood, brain, and other organs and tissues. Without being able to digest…

When you hear the Phenylketonuria, what do you think? Is it that you have never heard that word be used before? It could just be that you think it can be a very harmful disorder to the human body. There are many questions that are asked about Phenylketonuria (PKU), and many of those can be answered easily. PKU is a birth defect that causes an amino acid to build up in your body. This defect/disorder can be treated in a multitude of different methods. If it is left untreated it can lead to…

Phenylketonuria (PKU) is a disorder that causes an amino acid called phenylalanine to build up in a person’s body. PKU is caused by a defect in the gene, the PAH gene, that helps to create the enzyme hydroxlase that is responsible for breaking down phenylalanine. Without this important enzyme, a person will build up a dangerously high level of phenylalanine when they eat foods that are high in protein. Babies in the United States are screened for PKU soon after birth. Newborns with PKU…

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