Phenylketonuria Essay

Decent Essays
Phenylketonuria is an autosomal recessive error that leads to a mutation of the enzyme phenylalanine hydroxylase (PAH). This disease, more commonly known as PKU, is characterized by a deficiency in the enzyme needed to process the amino acid called phenylalanine (Mayo Clinic Staff, 2014). The mutated PAH is crucial in the degradation of amino acids. The amino acids we intake are from food, which makes PKU a metabolic disorder (Okan, 2011). The body’s inability to break down phenylalanine leads to a build up of it in the body. The excess of this amino acid negatively impacts the cognitive function of the individual. Phenylketonuria is the most common inborn error of amino acid metabolism (Arnold, 2014). Approximately 1 in 10,000 caucasian babies are born with PKU (Baulny, 2007). In order for a person to inherit phenylketonuria, the mother and father both must have and pass down the defective gene. The parents of someone afflicted by this disease may have the gene but not have PKU. This parent would…show more content…
Many times when babies are initially screened for the disease they are not yet showing any of the symptoms. As a child grows, the signs begin to emerge (Mayo Clinic Staff, 2014). Due to modern medicine, PKU, if spotted early can now be treated. However, if PKU goes untreated, permanent damage to the body will be evident (Williams, 2008). People with PKU will have many visible symptoms such as growth failure, fair pigmentation of the skin, hair loss, and skin rashes (Arnold, 2014). There are other symptoms that are warning signs of PKU that are less noticeable. For example, people suffering from phenylketonuria often have a musty body odor and their urine is characterized by strange coloring and an odd, musty odor as well. Many times these are the main warning signs for the illness in people that were not detected for PKU in the newborn screenings (Williams,
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