Courtni Russo
University of New Hampshire


Among diseases around the world, Phenylketonuria (PKU) is a rare and not commonly known by the average individual and more awareness of this disease is necessary in order for more research is to be conducted. There are case studies that have explored this disease like using vector-mediated gene transfer and different drugs to cure this disease. Many genomics databases like HapMap, 23andMe, SWING, and GWAS explore different aspects of PKU like ancestry, gene connections, and SNPs, but more research has to be carried out in order to obtain the maximum results. People who have this disease are trying to spread the word in social media about PKU so others will be aware of the disease.


Phenylketonuria (PKU) is a genetic abnormality that causes the body to resist the ability to break down the amino acid called phenylalanine, a toxin present in the blood.Both parents must have a
PKU PDB image.jpg
3-D image of Phenylalanine hydroxylase
nonworking version of the PAH gene, or one of the less common like PTS, GCH1, QDPR, PCBD1 and GFRP in order to pass along the disease to their offspring Haldeman-Englert, 2105; Gu et al., 2014). Phenylalanine is found in many food sources because it is a building block of proteins. High amounts of phenylalanine in the body from that lack phenylalanine hydroxylase results in health issues and mental disabilities that last a lifetime (Seki et al., 2015).

PKU symptoms and conditions do range from mild to severe. Some people have to just alter their diet in order to regulate their phenylalanine intake and prevent things like altered DNA methylation that controls gene expression. Others with more severe cases have permanent brain damage, behavioral problems, seizures, intellectual disabilities, microcephaly, skin discoloration, anxiety, and depression.
Newborn Screening.jpg
(Image open to the public on Google)

It is rare to come across this disease in an adult because
there is a screening for newborns to detect and treat the disease through a simple blood test before they leave the hospital. In those cases that do progress into the disease and then reproduce pose great risks for the offspring to develop the disease as well and show a greater number of symptoms .

Researchers have been conducting experiments in hope of finding patterns and treatments for individuals with PKU. It has been recognized that there is a correlation between DNA methylation, a mechanism used to control gene expression, and PKU. The genes associated with the overabundance of the phenylalanine toxin were turned off in an attempt to minimize the production of the toxin. Since a mutation is the reason for PKU, it has gotten people thinking about possible techniques as to fixing the mutation. An example of what researchers have worked on in Switzerland is something known as virus vector-mediated gene transfer to correct the mutations within the PAH gene that have restricted the use of the enzyme regulating Phe levels
(Ding, Georgiev, & Thöny, 2016). As far as research goes, the PAH gene is the primary gene associated with PKU, but some Chinese researchers have explored different signals from other genes and have opened up a new window for the true causes of PKU.

The PAH gene is the gene with the most information, but what about the other genes out there that are associated with PKU? Research is being done to try to pinpoint all genes, including PAH, that pose an affect on individuals with this disease. There are many methods of treatment but what current techniques are being done to cure individuals with PKU beyond infancy? Every individual’s case is different from all the others so the exploring different methods to treat this disease are underway.

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