PKU+Discussion

When the genes are passed down from mother and father to offspring, only the autosomal recessive offspring are affected (the red individual shown). Neither of the parents can be autosomal dominant in order for there to be a chance that the offspring will acquire this genetic disorder.

In a normal, healthy individual, the amino acid phenylalanine (Phe) will be present in the body from the food they eat. Some of the amino acid is used for building proteins, but the rest of the Phe is broken down by the enzyme phenylalanine hydroxylase and converted to tyrosine and other essential compounds. Individuals can either have classical PKU or tetrahydrobiopterin-deficient hyperphenylalaninemia. Classical PKU is where the PAH gene is mutated, so the PAH enzyme is dysfunctional to the breakdown of Phe. Tetrahydrobiopterin-deficient hyperphenylalaninemia occurs when the recycling of the cofactor tetrahydrobiopterin (BH4) and the PAH enzyme is functioning normal. Both of these forms of PKU result in a high concentration of Phe in the blood system and causes complications because the PAH cannot break down the Phe (Surtees and Blau, 2000). Since every individual is different, not every single case is due to the sole PAH gene (Gu et al., 2014). Knowing this information and working to understand the different genes that could be associated with PKU will le ad to more promising results on the treatments each individual needs.


 * Broader Impacts **

Throughout many genetic based sites, the information present about PKU is little to none. It is not a commonly heard disease, but the effects cannot be overseen. Being affected by this disease may seem embarrassing and personal, but the more people talk about their particular case and share the right information that could help them learn a thing or two and potentially help others that are in the same situation. For instance, Kevin Alexander has PKU and is brave enough to share his story with others and eventually made a film about his condition that went viral to send out a message to those with the disease and those who are part of the caretaking process of people with this condition. This whole process of expressing to the world that rare diseases are out there and affecting many individuals each day is crucial and more people like Kevin should hop on that train to raise awareness (Forman, 2013).

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