There are many disorders that can affect how a child grows and developments. One of the many disorders is a chronic disorder called Phenylketonuria (PKU). The complications that occur because of PKU are manageable making it very important to understand how the disorder is treated so these complications can be avoided.
Concept, System, Anatomy, and Physiology Phenylketonuria (PKU) affects the concept of metabolism and if not treated will affect the concept of cognition (“Cognition,” 2015). PKU is an inherited metabolic disorder in which the patient loses the ability to properly metabolize the amino acid phenylalanine (Phe) leading to a build up of Phe in the blood. Normally the enzyme called phenylalanine hydroxylase (PAH), metabolizes…show more content… This genetic disorder causes a mutation in the gene coding for the enzyme phenylalanine hydroxylase (PAH). Because there is a mutation in the PAH enzyme, Phe is not metabolized therefore leads to toxic amounts in the bloodstream and tissue. These toxic levels can lead to multiple medical problems including mental delays, delays in speech, seizures, and behavior issues. PKU is the most common metabolic disorder in United States newborns; about 1 in 13,000 to 19,000 is born with this chronic disorder (Lindegren et al.,…show more content… The main treatment of PKU is through diet and guarantee that Phe stays below a 120 to 360 μmol /L (Lindegren et al., 2012). Large amounts of Phe are found in high protein foods (meat, fish, eggs, and dairy) and aspartame so these foods need to be avoided. The PKU diet mainly consists of low-protein foods for example vegetables, fruits and some cereals (Giovannini et al., 2012). The amount of consumed protein needs to be recorded daily and blood tests are used to measure the amount of Phe in the bloodstream (Fidika, Salewski, & Goldbeck, 2013). Research is being done on others treatments for PKU, but these methods are still being tested (Lindegren et al.,