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Phenylketonuria

Phenylketonuria (PKU) is a genetic disorder that prevents the normal use of protein food. There is an amino acid called phenylalanine found in many proteins. For a normal human, the extra (unneeded) phenylalanine accumulated through food is excreted or broken down. It is normally converted into tyrosine, another amino acid, by a specific organic catalyst (enzyme) called phenylalanine hydroxylase (PAH). Bodies of people born with PKU are unable to do so because their PAH enzyme is not active. The first effect of this over-accumulation is usually damage to the nervous system, because of the amino acid that remains in the spinal fluid and blood. This all can be avoided by immediate diagnosis. If PKU is not detected in a person by a few weeks after birth, the brain will already be damaged irrevocably. For this reason, most states in America require testing for PKU and other similar diseases that must be detected early. A nurse will prick the heel of a newborn and draw some!

blood to test for abnormally high levels of phenylalanine. If positive, a second test is still done to be sure of the results. No time is wasted before treatment, because severe mental retardation could occur after just months of life.


"genetic disorders." Encyclopedia Britannica. 1976 ed.

Adam.com. "Phenylketonuria" ã2000

ment does not consist of a long list of a cocktail of drugs. It is actually just a change in diet. It is not really a strict diet to follow, but it is very important to the well being of the person to stay on it at least from infancy to adolescence. Scientists now have found new reasons for instructing someone to remain on the diet through adulthood, especially expectant mothers. The specified foods in the diet are lacking in phenylalanine, but have a high number of other nutrients. Many different people are involved in helping to treat a PKU sufferer. A physician prescribes the diet, a dietician designs it, the parents of the child administer the diet, and the treated one must be cooperative. The doctor and dietician must be consulted very often however; since tastes, needs, hormones and social activities change as a child grows.

"PKU" U*X*L Science. U*X*L, 1998. Reproduced in Student Resource center- Thomas Dale High School Library. Feb 23. 2000

Brynie, Faith Hickman. Genetics and Human Health. Connect

Some common words found in the essay are:
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Approximate Word count = 801
Approximate Pages = 3 (250 words per page double spaced)


  

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