Phenylketonuria Genetic Disease

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Phenylketonuria Janelle Kleber Professor Philcox Developmental Psychology MWF 8:30 November 30, 2012 Phenylketonuria is a rare congenital genetic disease in which a baby is born and lacks the ability to break down the certain amino acid phenylalanine. These few babies do not possess the gene that allows them to produce the enzyme called phenylalanine hydroxylase which is needed to break down the essential amino acid called phenylalanine. Phenylalanine is found in foods that contain protein, which most people do consume throughout their life, so this ability to process it would be extremely necessary, as it is hard to avoid a diet that contains some sort of protein. Without the enzyme to break down the phenylalanine, it and two…show more content…
Phenylalanine is closely linked to the production of melanin in the body. Melanin is the chemical found in the body that is responsible for the pigment of our hair, skin and eyes. Thus if the child cannot digest the phenylalanine then melanin production will be hindered, causing the affected child to have much lighter pigmented eyes, hair and skin than other brothers and sisters would have genetically. Another side effect of consuming too much phenylalanine is a musty odor present in the perspiration, urine and even on the child's breath. The child's head may also be noticeably smaller than usual. These symptoms are not really harmful to a person with the disorder, whereas there can be many terrible symptoms that present themselves such as mental retardation as said before, which can lead to seizures, tremors and jerking movements of the arms and legs. Some with the disorder tend to have unusual positioning of the hands also. Lastly skin rashes can cause irritation/pain and social issues for the…show more content…
"Diet for Life" is the most common treatment for Phenylketonuria, but some new drugs have been introduced to try to block the uptake and increase tolerance to phenylalanine such as Sapropterin. This drug therapy is not effective for all PKU sufferers. For the dieting treatment strategy there is even a special infant formula for babies with the disorder known as Lofenalac. This formula is specially made for babies who suffer the disorder and can be taken throughout life as a good source of nutrition and balanced amino acids that are phenylalanine

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