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Old 02-15-2007, 07:31 PM   #3 (permalink)
Oliver
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Join Date: Feb 2007
Location: lower Michigan
Posts: 16
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Surprising .. I was under the impression that phenylketonuria (PKU) is treated by sticking to a low-protein diet and avoiding aspartame. I gather that there is some supplement, in addition to tyrosine, that you are taking, and that that is where the expense enters the equation.

PKU is caused by a genetic disorder. The PAH gene controls the production of the enzyme phenylalanine hydroxylase, which is what turns phenylalanine into tyrosine, an important amino acid. As you alluded, Bitsy, without that enzyme's proper activity level, your body converts phenylalanine into phenylpyruvic acid. The buildup of that acid, which can cross the blood-brain barrier, leads to progressive mental retardation.

We already know that genetic structure can be changed. Retro-viruses like HIV do it every day; that is the meaning of "retro-virus", that the virus invades a host cell, dumps off its chunk of code, and that chunk becomes part of the host's DNA. We also know that our own medical science is working with gene therapy and has met with some success (we just haven't been at it as long as the virii have).

For the purpose of the visualization, I'm assuming you do not have a problem with cofactor BH4.

Envision the PAH gene directing the production of all the enzyme (phenylalanine hydroxylase) you need. You can leave the details (regarding how the gene gets fixed) to the universe, of course. See the gene as a little factory manager, and the little guy is making sure the factory produces enough of the enzyme. You may also decide to include visualizations of your doctor happily pronouncing you cured after testing shows plenty of phenylalanine hydroxylase in your system.

That is my suggestion for your visualization.
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