Phenylketonuria (PKU) Disease: Inborn Error

PhenylketonuriaNameInstitutional AffiliationDate Phenylketonuria Phenylketonuria (PKU) is an inborn error on the metabolism of amino acids that can be detected during the first days of birth if appropriate blood testing is carried out on the child CITATION Mar14 \l 1033 (Mark, Elaine, Jill, Paul, & Mary, 2014). There are also different terms that are used to refer to phenylketonuria condition. Such include Classical Phenylketonuria, Hyperphernylalanemia, Phenylalaninemia, Folling Disease, and Phenylalanine Hydroxylase DeficiencyCITATION Bla101 \t \l 1033 (Blau, Spronsen, & Levy, 2010). PKU is characterized by the absence of Phenylalanine Hydroxylase enzyme that is involved in the processing of one of the essential amino acids in the body called phenylalanine. Phenylalanine amino acids are present in most of the protein foods that we take. Amino acids are the building blocks of proteins that are involved in the growth and development of different cells in the body. Under ordinary circumstances, phenylalanine is supposed to be converted to a different form of amino acid that is called tyrosine that is used by the body in growth and development. However, if it occurs that the enzyme (phenylalanine hydroxylase) is not in the body, then phenylalanine will not be converted into its appropriate form and it will instead accumulate in the blood which will later affect the brain tissues CITATION Jah14 \l 1033 (Jahja, Huijbregts, & Sonneville, 2014). After birth, the symptoms that are associated with PKU cannot be observed at first. As mentioned earlier, the condition can be detected if one carries out a blood test of the newborn. Given that the disease cannot be easily detected, the National Human Genome Research Institute reports that most of the hospitals located in the US carry out a blood test on the newborns to ensure that there is an early diagnosis which will lead to early treatment CITATION Nat101 \l 1033 (National Human Genome Research Institute, 2010). In most of the instances, infants suffering from PKU appear to be abnormally drowsy and they experience difficulties when they are feeding CITATION Bil16 \l 1033 (Bilder, Noel, Baker, & Irish, 2016). The untreated infants also appear to be lightly pigmented with light eyes, hair and even the skin. This is due to the high levels of phenylalanine in the body, they will interfere with the chemical that is responsible for maintaining melanin CITATION Bil16 \l 1033 (Bilder, Noel, Baker, & Irish, 2016). Rashes can also be observed on the skin of the infants and it is accompanied by blistering, itching and redness on the areas that have been affected. In addition, developmental retardation is observed in children with PKU who have not gone through treatment. The average IQ of the children who are untreated in most cases is less than 50 CITATION Bil16 \l 1033 (Bilder, Noel, Baker, & Irish, 2016). The main organ affected by the disease is the brain and therefore infants with PKU can suffer from mental retardation that progressively becomes severe. There are also additional neurologic symptoms that can accompany the infants such as the occurrence of seizures due to uncontrolled electrical activities that take in the brain, hyperactivity due to abnormally increased...